C2991
Disease or Disorder
Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function.
Disease
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Organismal Process
C19988
A biologic function, activity, or process involving either specialized organ functions, individual organs, organ systems, body parts, or whole organisms.
NICHD Pediatric Terminology
Person
A human being.
C25190
NICHD Pediatric Terminology
Finding
Clinical, laboratory or molecular evidence, or absence of evidence of disease.
Clinical Finding
NICHD Pediatric Terminology
Neonatal Research Network Terminology
C3367
A distinguishing quality or prominent aspect of a person, object, action, process, or substance.
C20189
NICHD Pediatric Terminology
Property or Attribute
NICHD Pediatric Terminology
C45306
Any matter of defined composition that has discrete existence, whose origin may be biological, mineral or chemical.
An object contrived for a specific purpose.
NICHD Pediatric Terminology
C62103
Device
NICHD Pediatric Terminology
C12219
A human biological structure, fluid or other substance; excludes single molecular entities.
Anatomic Structure, System, or Substance
NICHD Pediatric Terminology
C16205
NICHD Pediatric Terminology
Healthcare Activity
The actions of prevention, treatment, and management of illness and the preservation of mental and physical well-being through the services offered by the medical and allied health professions.
NICHD Pediatric Terminology
A living entity.
Organism
C14250
NICHD Pediatric Terminology
3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis.
_
C98683
NICHD Pediatric Terminology
Neonatal Research Network Terminology
3-Methylglutaconic Aciduria Type 1
An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism.
_
C98699
NICHD Pediatric Terminology
Neonatal Research Network Terminology
5 Alpha Steroid Reductase 2 Deficiency
A rare disorder associated with mental retardation, spasticity, and early death.
5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.
C84524
NICHD Pediatric Terminology
Neonatal Research Network Terminology
5' 10' Methylenetetrahydrofolate Reductase Deficiency
A very rare congenital condition involving the complex of Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.
_
C3718
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome
A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.
_
C84585
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Barth Syndrome
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.
_
C34518
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cri du Chat Syndrome
The portion of the body that lies between the thorax and the pelvis.
_
C12664
Abdominal_Structure
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Abdominal Cavity
Formation of blood clot in the lumen of the abdominal aorta. It may lead to severe abdominal pain and ischemic necrosis of the intestine.
_
C98701
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Abdominal Aortic Thrombosis
Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.
_
C92921
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Abdominal Pregnancy
An abnormality in the position of the fetus during the labor and delivery process.
_
C92725
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Abnormal Fetal Attitude
A pregnancy that is complicated and affected by an abnormal finding or disease condition in either the fetus and/or the mother.
_
C92726
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Abnormal Pregnancy
Any termination of pregnancy happening before the fetus is able to sustain independent life.
_
C35221
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Abortion Finding
A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.
_
C61262
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sanfilippo Syndrome
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (MeSH)
_
C34345
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Achondroplasia
Cataracts in both eyes that result from the aging process, an injury, or as a manifestation of a systemic disorder.
_
C101191
NICHD Pediatric Terminology
Acquired Bilateral Cataracts
Cataract that results from the aging process, an injury, or as a manifestation of a systemic disorder.
_
C98802
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Cataract
Chylothorax that results from malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, or sarcoidosis.
_
C98804
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Chylothorax
Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.
_
C34347
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Coagulation Factor Deficiency
Hydrocephalus that results from head trauma, brain tumors, intracranial hemorrhage, or meningitis.
_
C98803
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Hydrocephalus
Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods.
_
C98805
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Methemoglobinemia
Damage to the phrenic nerve that was not present at birth.
_
C103188
Phrenic Nerve Injury, Acquired
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Phrenic Nerve Injury
Damage to the phrenic nerve that results in paralysis of the hemidiaphragm and was not present at birth.
_
C103189
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Phrenic Nerve Palsy
Rickets that is caused by vitamin D deficiency, hypocalcemia, or renal failure.
_
C98806
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Rickets
The formation of a thrombus in the artery as a direct result of an activity associated with vascular access.
_
C101338
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arterial Thrombosis due to Vascular Access Complication
The formation of a thrombus in the vein as a direct result of an activity associated with vascular access.
_
C101339
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Venous Thrombosis due to Vascular Access Complication
A cataract in one eye that results from the aging process, an injury, or as a manifestation of a systemic disorder.
_
C101192
Cataract, Acquired, Unilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acquired Unilateral Cataract
A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.
_
C34348
NICHD Pediatric Terminology
Acrocephalosyndactyly
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.
_
C99099
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type I Acrocephalosyndactyly
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.
_
C99100
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type V Acrocephalosyndactyly
The period during the first stage of labor and childbirth involved with cervical dilatation, effacement, and fetal station.
_
C92943
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Active Phase of Labor
Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.
_
C27043
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acute Respiratory Failure
An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.
_
C92621
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Acute Stress Disorder
Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.
_
C34749
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acute Renal Failure with Tubular Necrosis
A standardized representation of the location of a person, business, building, or organization.
_
C25407
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Address
The time period between the beginning of puberty and adulthood.
A human life stage that begins at twelve years of age and continues until twenty-one complete years of age, generally marked by the beginning of puberty and lasting to the beginning of adulthood.
C39298
NICHD Pediatric Terminology
Adolescence
An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).
_
C26691
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Adrenal Gland Insufficiency
Hemorrhage and necrosis of the adrenal gland tissue. Bilateral and extensive hemorrhage may lead to acute adrenal insufficiency, shock, and death.
_
C98808
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Adrenal Hemorrhage
A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.
_
C98905
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Corpus Callosum Agenesis
A congenital deformity in which there is no laryngeal structure.
_
C101279
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Laryngeal Agenesis
An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.
_
C34362
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Agoraphobia
A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease.
_
C99086
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Airway Hemangioma
A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin.
_
C84543
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Albinism
A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.
_
C92727
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Alcohol Related Birth Defect
A cognitive and neurological disorder due to fetal intrauterine exposure to maternal alcohol consumption. Typically, this presents without facies or other growth abnormalities.
_
C92728
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Alcohol Related Neurodevelopmental Disorder
A description of an individual's current and past experience with alcoholic beverage consumption.
_
C81229
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Alcohol Use History
A cyst that develops from the remnants of the urachus.
_
C85216
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Urachal Cyst
A substance that elicits an allergic reaction.
_
C62651
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Allergen
A local or general reaction of an organism following contact with a specific allergen to which it has been previously exposed and to which it has become sensitized.
_
C3114
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Hypersensitivity
A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.
_
C84397
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Alpha-1 Antitrypsin Deficiency
The determination of the amount of alpha-fetoprotein present in a sample.
_
C74732
Alpha-1-Fetoprotein_Measurement
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Alpha-fetoprotein Measurement
A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy.
_
C98809
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Alveolar Capillary Dysplasia
A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia.
_
C98810
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ambiguous Genitalia
A congenital malformation characterized by the complete absence of all limbs.
_
C34370
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Amelia
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
_
C97090
Disorder of Amino Acid Metabolism
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Amino Acid Metabolism Disorder
A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus.
_
C52009
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Amniocentesis
The procedure of instilling saline or other fluids into the amniotic cavity using an intrauterine catheter.
_
C92729
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Amnioinfusion
A rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. It may result in the formation of constriction rings around the digits and upper and lower extremities, swelling of the extremities and congenital amputations.
_
C84552
Deformity due to Amniotic Band
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Amniotic Band Syndrome
The fluid within the amniotic cavity which surrounds and protects the developing embryo. It is initially produced by the amnion and then later by the lungs and kidneys. The amount at term normally varies from 500 to 2000 ml.
_
C13188
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Amniotic Fluid
A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition.
_
C98811
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Anasarca
A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics.
_
C27226
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Androgen Insensitivity Syndrome
A reduction in the number of red blood cells per cu mm, the amount of hemoglobin in 100 ml of blood, and the volume of packed red blood cells per 100 ml of blood. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.
_
C2869
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Anemia
A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.
_
C101218
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemolytic Anemia due to Membrane Defect
A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.
_
C97167
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Anemia of Prematurity
A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.
_
C84560
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Anencephaly
Treatment with a pharmacological substance that produces a loss of feeling.
_
C15181
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Anesthesia Procedure
Bulging or ballooning in an area of an artery secondary to arterial wall weakening.
_
C26693
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aneurysm
A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.
_
C75462
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Angelman Syndrome
A type of pregnancy which starts with the embryo in the interstitial section of the fallopian tube, which then grows into the uterine cavity.
_
C92730
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Angular Pregnancy
A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus.
_
C32078
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Ankle Joint
A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance.
_
C98813
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Annular Pancreas
A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit.
_
C98814
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Anophthalmos
A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.
_
C34387
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Anorexia Nervosa
The period of time preceding labor and delivery.
_
C92731
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Antepartum
A fetal position during delivery in which the head of the fetus faces the mother's back.
_
C92732
Occiput Anterior
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Anterior Occiput Presentation
A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.
_
C98815
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Antithrombin III Deficiency
A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.
_
C2878
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Anxiety Disorder
A sac formation resulting from the localized dilatation of the wall of the aorta.
_
C26697
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aortic Aneurysm
A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.
_
C101050
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Aortic Septal Defect
A heart disorder characterized by a defect in aortic valve structure or function.
_
C78650
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aortic Valve Disorder
Narrowing of the orifice of the aortic valve or of the supravalvular or subvalvular regions.
_
C50462
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aortic Stenosis
The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.
_
C73437
Component_of_Apgar_Score
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
APGAR Score
The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at one minute after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.
_
C98816
NICHD Pediatric Terminology
Neonatal Research Network Terminology
APGAR Score at One Minute
The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at ten minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.
_
C98817
NICHD Pediatric Terminology
Neonatal Research Network Terminology
APGAR Score at Ten Minutes
The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at fifteen minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.
_
C98819
NICHD Pediatric Terminology
Neonatal Research Network Terminology
APGAR Score at Fifteen Minutes
The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at twenty minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.
_
C98820
NICHD Pediatric Terminology
Neonatal Research Network Terminology
APGAR Score at Twenty Minutes
The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at five minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color.
_
C98821
NICHD Pediatric Terminology
Neonatal Research Network Terminology
APGAR Score at Five Minutes
A test devised by Dr. Virginia Apgar to assess the overall health of a newborn upon birth. The test is administered at one and five minutes after birth and allows for the assignation of numerical values between zero and two for specific observations regarding skin color, pulse rate, reflex irritability, muscle tone and breathing.
_
C81230
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
APGAR Test
Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.
_
C98822
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aplasia Cutis Congenita
Transient cessation of respiration.
_
C26698
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Apnea
The cessation of breathing in premature infants that lasts for more than 15-20 seconds.
_
C98823
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Apnea of Prematurity
Acute inflammation of the vermiform appendix.
Appendicitis is a condition characterized by inflammation of the appendix, a small pouch attached to the beginning of the large intestine.
C35145
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acute Appendicitis
An assessment of the fetus or the newborn infant for growth and size that is considered within normal ranges.
_
C92733
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Appropriate for Gestational Age
A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.
_
C98824
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aprosencephaly
An intracranial or spinal cyst which contains fluid and is composed of arachnoid cells. Intracranial arachnoid cysts may present with headaches, seizures and hydrocephalus. Spinal arachnoid cysts may present with symptoms of radiculopathy.
_
C3455
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arachnoid Cyst
A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation.
_
C84569
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Argininosuccinic Aciduria
The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb.
_
C32141
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Arm
A test commonly administered to assess the physiologic response to extending the arms as straight as possible alongside the body when lying down.
_
C90496
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arm Recoil
Formation of a blood clot in the lumen of an artery.
_
C98826
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arterial Thrombosis
An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.
_
C35139
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Alagille Syndrome
A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs.
_
C99029
Pulmonary Arteriovenous Malformation
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Arteriovenous Fistula
A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.
_
C4297
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arteriovenous Hemangioma
An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the liver.
_
C35611
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hepatic Arteriovenous Malformation
A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.
_
C84572
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arthrogryposis
Introduction of sperm into the female reproductive tract by artificial means in order to achieve fertilization.
_
C16739
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Artificial Insemination
An external intervention during labor and delivery to break the bag of membranes or the amniotic sac to facilitate childbirth.
_
C92734
AROM
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Artificial Rupture of Membrane
Accumulation of fluid in the peritoneal cavity. The fluid may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum.
_
C2885
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ascites
A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.
_
C97159
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Asperger Syndrome
A method to find the position of the fetal head in the uterine cavity in its descent during labor.
_
C92735
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Assessment of Fetal Attitude
A method to determine health status of fetus; it includes prenatal diagnostic methods and obstetrical management.
_
C92920
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Assessment of Fetal Condition
The monitoring of the fetal heart to determine the cardiac status and health of the fetus during pregnancy and labor.
_
C92736
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Assessment of Fetal Heart Condition
A series of maneuvers to determine the position and presenting part of the fetus with respect to the maternal pelvic canal in preparation for labor and the birth process.
_
C92737
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Assessment of Fetal Presentation
An intervention during the childbirth process to help the laboring mother deliver her baby.
_
C92738
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Assisted Labor
The least common subtype of cerebral palsy, in which the individual displays hypotonia, a loss of motor coordination, and an intention tremor. Individuals with ataxic cerebral palsy walk very unsteadily, with a wide-based gait.
_
C97168
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Ataxic Cerebral Palsy
A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.
_
C97169
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Athetoid Cerebral Palsy
A malformation characterized by the absence of a normal opening in a part of the large intestine.
_
C98827
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Large Intestine Atresia
A malformation characterized by the absence of a normal opening in a part of the small intestine.
C98828
NICHD Pediatric Terminology
Small Intestine Atresia
An arrhythmia characterized by uncoordinated atrial myocardium activation due to multiple reentry circuits with consequent deterioration of atrial mechanical function. Instead of intermittently contracting, the atria quiver continuously in a chaotic pattern, causing a totally irregular, often tachycardia ventricular rate. On the ECG it is described by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape, and timing, associated with an irregular, frequently rapid ventricular response when atrioventricular conduction is intact.
_
C50466
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Atrial Fibrillation
An arrhythmia characterized by organized rhythmic contraction of the atria which is generally at a rate of 200-300 beats per minute. Atrial Flutter is characterized by a sawtooth pattern of regular atrial activation called flutter waves on the electrocardiogram, particularly visible in leads II, III, aVF and v1.
_
C51224
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Atrial Flutter
The presence of a defect (opening) in the septum that separates the two atria of the heart. The ASD can be congenital or acquired.
_
C84473
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Atrial Septal Defect
The individual assigned to be the primary care manager overseeing a patient's medical care during an episode of hospitalization.
_
C81231
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Attending Health Care Provider
A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). At least some of the symptoms must be present before the age of 7 years.
_
C97160
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Attention Deficit Hyperactivity Disorder
Any vaccine created by reducing the virulence of bacteria but still keeping the bacteria viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by "killing" the pathogen (inactivated vaccine).
_
C62761
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Attenuated Bacteria Vaccine
Any vaccine created by reducing the virulence of the infectious agent but still keeping the agent viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by killing the pathogen (inactivated vaccine).
_
C97116
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Attenuated Live Vaccine
Live vaccines prepared from microorganisms which have undergone physical adaptation (e.g., by radiation or temperature conditioning) or serial passage in laboratory animal hosts or infected tissue/cell cultures, in order to produce avirulent mutant strains capable of inducing protective immunity. Live-attenuated vaccines are used when a CD8+ T Cell (cellular cytotoxicity) response is desired.
_
C1920
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Attenuated Live Virus Vaccine
Testing conducted utilizing a manual or microprocessor audiometer to test for hearing loss.
_
C38036
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Audiometric Test
Listening with a device, such as a stethoscope, to anatomical locations that produce audible sounds like the heart, lungs and abdomen.
_
C85573
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Auscultation
A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years.
_
C97161
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Autism
A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.
_
C88412
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Autism Spectrum Disorder
A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).
_
C2889
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Autoimmune Disease
An inherited disorder that manifests when one copy of a mutated gene is present.
_
C98829
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Autosomal Dominant Inherited Disorder
An inherited disorder manifested only when two copies of a mutated gene are present.
_
C85866
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Autosomal Recessive Inherited Disorder
A type of labor where the labor pain or discomfort is felt by the pregnant mother in her back.
_
C92739
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Back Labor
Unicellular, prokaryotic organisms that reproduce by cell division and usually have cell walls; can be shaped like spheres, rods or spirals and can be found in virtually any environment.
C14187
NICHD Pediatric Terminology
Bacteria
An acute infectious disorder caused by gram positive or gram negative bacteria. Representative examples include pneumococcal , streptococcal, salmonella and meningeal infections.
_
C2890
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Bacterial Infection
A test done during pregnancy for the presence of Gardnerella vaginalis, Ureaplasma urealyticum, Mycoplasma hominis, Mobiluncus, Prevotella and anaerobic bacteria.
_
C92740
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Bacterial Vaginosis Screening
The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity.
_
C81282
Dubowitz_Score
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Dubowitz Score
The presence of peritoneal attachments (bands) that obstruct the duodenum. The attachments result from malrotation of the large intestine. This abnormality is manifested with severe vomiting soon after birth or after the first feeding of the infant.
_
C98830
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ladd Band
Useful in assessing for developmental dysplasia of the hip, this test is performed when the thigh is pushed posteriorly and the hip is adducted. Should the hip become dislocated by this movement, the result is considered positive.
_
C89512
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Barlow's Maneuver
The number of fetal cardiac beats per minute, considered as the reference value against which measurements in the future can be made.
_
C92741
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Baseline Fetal Heart Rate
Abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung.
_
C61454
Basal_Crepitations
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Basilar Rales
The second edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age.
_
C99149
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bayley Scale of Infant Development II
The third edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age.
_
C99150
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bayley Scale of Infant Development III
A standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age.
_
C81232
Bayley_Scale_of_Infant_Development
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Bayley Scale of Infant Development
A fetal heart monitor finding where there is a change in the beats per minute from one fetal heart beat to the next.
_
C92781
Fetal Heart Rate Variability
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Heart Beat to Beat Variability
A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas.
_
C34415
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Beckwith-Wiedemann Syndrome
The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli.
_
C16326
NICHD Pediatric Terminology
Behavior
Assessment of individual responses to age appropriate stimuli.
_
C81234
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Behavioral Assessment
The evolution of actions, including reactions and responses to the environment, over an individual's lifespan.
_
C81233
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Behavioral Development
A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment.
_
C35470
Behavior_Finding
NICHD Neurological Development Terminology
Neonatal Research Network Terminology
Behavior-Related Disorder
A range of values designed to quantify the qualitative responses of an individual to a set of challenges.
_
C81235
Behavior_Rating_Scale
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Behavioral Rating Scale
Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy).
_
C98840
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Benign Congenital Hypotonia
A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.
_
C98841
BKT
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Beta-Ketothiolase Deficiency
A rare congenital abnormality characterized by the complete absence of ocular tissue in both orbits.
_
C101187
Anophthalmos, Bilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bilateral Anophthalmos
Partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)
_
C101193
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bilateral Cataracts
A congenital abnormality characterized by the underdevelopment of both optic nerves.
_
C101268
Hypoplasia of the Optic Nerve, Bilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bilateral Optic Nerve Hypoplasia
A congenital abnormality characterized by the presence of two abnormally small eye globes.
_
C101189
Microphthalmos, Bilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bilateral Microphthalmos
A congenital abnormality characterized by the absence of both kidneys.
_
C101219
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bilateral Renal Agenesis
A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation.
Bilateral renal dysplasia is a congenital malformation in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation.
C101313
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bilateral Renal Dysplasia
A dark orange, yellow pigment that is the product of the breakdown of iron in the blood; it is conjugated in the liver and excreted in the bile.
_
C305
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Bilirubin
A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control and a sense of disgust and shame; unlike bulimia, however, there is no attempt to compensate for the binge-eating through vomiting or fasting.
_
C97162
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Binge Eating Disorder
Biotechnology-derived pharmaceutical agents made from living organisms or their products. Includes recombinant proteins, monoclonal antibodies, and nucleic acids.
C307
NICHD Pediatric Terminology
Biological Agent
Material produced by living organisms; it can be a necessary constituent of, or product of an organismal process.
_
C13236
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Body Fluid or Substance
A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.
_
C84598
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Biotinidase Deficiency
A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma.
_
C98842
Neonatal Multiple Carboxylase Deficiency
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Holocarboxylase Synthetase Deficiency
A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.
_
C34423
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Bipolar Disorder
The event of being born.
_
C25155
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Birth
The development of a problematic medical situation that occurs concurrently with the birth of a neonate.
_
C81236
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Birth Complication
The calendar date on which a person was born.
_
C68615
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Birth Date
The facility which provides a setting with provisions for monitoring and delivering babies.
_
C81237
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Birth Facility
The hour, minute, and/or second at which birth occurs.
_
C81296
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Birth Time
An injury sustained to a neonate during the birthing process.
_
C101035
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Birth Trauma
In humans, the weight of a neonate measured within one hour after birth. The factors influencing the birth weight include but not limited to infant sex, racial and ethnic group, maternal size and health status, concurrent diseases, parity, and nutrition, pregnancy environment and conditions, e.g. altitude of geographic area.
_
C76325
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Birth Weight
An abnormal communication between the urinary bladder and another organ or anatomic site.
_
C79849
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vesical Fistula
The lack of vision. It is caused by neurological or physiological factors.
_
C97109
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Blindness
The determination of the number of red blood cells, white blood cells, and platelets in a blood sample.
_
C28133
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Blood Cell Count
A disorder of blood clotting that is attributable to a deficiency in liver function.
_
C101333
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Coagulation Disorder due to Liver Dysfunction
A quantitative measurement for assessing the amount of glucose present in a blood sample.
_
C92744
Glucose_Measurement_Blood
NICHD Pregnancy and Childbirth Terminology
Blood Glucose Measurement
A diagnostic test to classify the blood type of an individual. It is determined based on the presence or absence of certain antigens on the red blood cells surface.
_
C98843
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Blood Type Determination
The pressure of the circulating blood against the walls of the blood vessels.
_
C54706
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Blood Pressure
Any natural or synthetic composition that replicates the structure or function of a native component of blood.
_
C81304
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Blood Product
The determination of the measured concentrations of chemical constituents of the blood by assay in a clinical laboratory.
_
C47868
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Blood Chemistry Measurement
A quantitative measurement for assessing the amount of protein present in a blood sample.
_
C92745
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Blood Protein Measurement
The injection of whole blood or a blood component directly into the bloodstream.
_
C15192
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Blood Transfusion
The specific reaction pattern of erythrocytes of an individual to the antisera of one blood group; e.g., the ABO blood group consists of four major blood types: O, A, B, and AB. This classification depends on the presence or absence of two major antigens: A or B. Type O occurs when neither is present and type AB when both are present. The blood type is the genetic phenotype of the individual for one blood group system and may be determined using different antisera available for testing.
_
C61009
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Blood Type
Formation of a blood clot in the lumen of a vessel. Causes include coagulation disorders and vascular endothelial injury.
_
C26891
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thrombosis
Any part of an organism.
_
C32221
Body_Structure
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Body Part
The weight of a subject.
_
C81328
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Body Weight
A species of bacteria within the phylum Proteobacteria consisting of gram-negative aerobic coccobacillus that are the causative agent of pertussis.
_
C76205
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Bordetella pertussis
Provision of liquid nutrition via a closed container system with a rubber like mouthpiece resembling a nipple.
_
C81305
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Bottle Feeding
Damage to the nerves in the brachial plexus network. These nerves originate in the spinal column and innervate the shoulder, arm and hand. Often, damage is sustained from overstretching or motor vehicle accidents.
_
C103231
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Brachial Plexus Injury
Birth injury to the brachial plexus. It results in paralysis of the muscles of the shoulder, arm, and hand. It manifests as lack of mobility in the arm, usually in the first week of life. In the majority of cases there is spontaneous recovery.
_
C102990
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Brachial Plexus Palsy due to Birth Trauma
A method of birth coaching in assisting the mother by her partner, to relieve her distress during labor and delivery by applying relaxation techniques and encouraging abdominal breathing.
_
C92742
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Birth Partner Coached Method of Delivery
A group of congenital or acquired disorders that affect the normal development of the brain.
_
C96412
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Brain Developmental Abnormality
A non-neoplastic or neoplastic disorder that affects the brain.
_
C96413
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Brain Disorder
Narrowing of the lumen of the right or left pulmonary artery branch.
_
C99144
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Branch Pulmonary Artery Stenosis
An assessment tool created by Dr. T. Berry Brazelton and his colleagues to assist caregivers in determining developmental strengths and weaknesses in infants from birth to the age of two months.
_
C81238
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Brazelton Neonatal Behavioral Assessment Scale
A painful swelling of the breasts due to accumulation of milk in blocked lactating ducts.
_
C92746
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Breast Engorgement
The nursing of an infant at the mother's breast.
_
C25596
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Breast Feeding
Milk produced by female mammals for the purpose of feeding their young.
_
C13257
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Breast Milk
The tenderness of the breasts during pregnancy due to changes in the hormonal levels and increased breast tissue growth.
_
C92855
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Breast Soreness
A component of the APGAR score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry.
_
C81306
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Breathing Effort Score
A type of fetal presentation when the baby descends into the birth canal with hips, buttocks or its foot first during delivery.
_
C34438
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Breech Presentation
A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.
_
C98847
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bronchomalacia
A non-neoplastic lung disorder which develops in premature neonates who have been treated with oxygen and mechanical ventilation.
_
C90599
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bronchopulmonary Dysplasia
The protrusion in the perineal area during the second stage of labor. It is the characteristic sign of impending birth and is caused by increased pressure in the region.
_
C92747
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Bulging Perineum
A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.
_
C34440
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Bulimia
A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma.
_
C98863
NICHD Pediatric Terminology
Neonatal Research Network Terminology
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Surgical removal of uterus as a concurrent procedure after a cesarean delivery.
_
C92753
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cesarean Hysterectomy
The delivery of an infant through a surgical abdominal incision. Surgery is performed when there may be complications associated with a vaginal birth and increased risk to the mother or fetus.
_
C46088
C-Section
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Caesarian Section
A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome.
_
C40460
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cafe Au Lait Patch
A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects.
_
C84609
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Campomelic Dysplasia
A diffuse swelling of the scalp in a newborn, usually caused by the trauma of the scalp pushing through a narrowed cervix during birth. The swelling may extend across the midline of the scalp and may exhibit discoloration or bruising.
_
C87067
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Caput Succedaneum
A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability.
_
C84612
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Carbamoyl-Phosphate Synthetase I Deficiency
An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance.
_
C97089
Disorder of Carbohydrate Metabolism
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Carbohydrate Metabolism Disorder
An autosomal recessive disorder of carbohydrate metabolism. It is characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism.
_
C84615
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Carbohydrate-Deficient Glycoprotein Syndrome
An electrocardiographic finding of any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.
Cardiac Arrhythmias are heart-rhythm problems - they occur when the electrical impulses to the heart that coordinate heartbeats are not working properly, making the heart beat too fast/slow or inconsistently.
C2881
NICHD Pediatric Terminology
Arrhythmia
An emergency measure on newborns, which requires assistance to begin breathing at birth. Initial resuscitation includes administration of positive-pressure ventilation and chest compressions to empty the ventricles of the heart in an effort to circulate the blood, and also to stimulate the heart so that it will resume its pumping action.
_
C103157
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cardiac Compression during Initial Resuscitation
A disorder affecting the conduction system that sends electrical signals in the myocardium.
_
C78245
Disorder of Cardiac Conduction
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heart Conduction Disorder
The act of observing and recording the heart rate for determining the baseline values and any variations or other abnormal tracings.
_
C98935
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heart Monitoring
Measures performed to restore cardiac function.
_
C102971
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cardiac Resuscitation
A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.
_
C84482
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Septal Defect
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
_
C34830
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cardiomyopathy
A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.
_
C2931
Disorder of Cardiovascular System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cardiovascular Disorder
Symptoms, physical examination results, and/or laboratory test results related to the cardiovascular system.
_
C35552
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cardiovascular System Finding
A term that refers to individual anatomic parts of the heart or the vessels.
_
C25762
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cardiovascular System Part
An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.
_
C98864
Renal Carnitine Transport Defect
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Primary Carnitine Deficiency
A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma.
_
C98871
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Carnitine Palmitoyltransferase I Deficiency
An extremely rare autosomal recessive inherited syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
_
C98873
Acrocephalopolysyndactyly Type II
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type II Acrocephalopolysyndactyly
Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)
_
C26713
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cataract
The circumstance or condition that results in the death of a living being.
_
C81239
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cause of Death
The sequence of numbers or characters, that when dialed, connects to a particular cellular telephone.
_
C81240
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cellular Telephone Number
A bacterial infection that affects and spreads in the skin and soft tissues. Signs and symptoms include pain, tenderness and reddening in the affected area, fever, chills, and lymphadenopathy.
_
C26715
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cellulitis
A basic unit of length in the former CGS version of metric system, equal to one hundredth of a meter or approximately 0.393 700 787 inch.
_
C49668
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Centimeter
A disorder characterized by impairment of the auditory processing, resulting in deficiencies in the recognition and interpretation of sounds by the brain. Causes include brain maturation delays and brain traumas or tumors.
_
C97170
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Central Auditory Processing Disorder
Hearing loss caused by a problem along the pathway from the inner ear to the auditory region of the brain or in the brain itself.
_
C34662
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Central Hearing Loss
A congenital or acquired cyst that is present in the central nervous system.
_
C4657
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Central Nervous System Cyst
A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.
_
C4802
Degenerative Disease of the Central Nervous System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neurodegenerative Disorder
Generalized depression of the central nervous system of an infant during the perinatal period.
_
C101271
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Central Nervous System Depression
A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord.
_
C2934
Disorder of Central Nervous System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Central Nervous System Disorder
An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.
_
C27582
Infectious Disease of Central Nervous System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Central Nervous System Infectious Disorder
Signs and symptoms associated with disturbances within the central nervous system, which includes the brain, spinal cord and meninges.
_
C87124
Central_Nervous_System_CNS_Symptom
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Central Nervous System Signs and Symptoms
A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head.
Spongy degeneration of central nervous system , spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy.
C84611
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Canavan Disease
A subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma.
_
C50484
Fetal_Cephalhematoma
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Fetal Cephalhematoma
A fetal position during delivery in which the head of the fetus descends into the maternal pelvis.
_
C92748
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cephalic Presentation
An abnormal condition during labor when the diameter of the fetal head is larger than the maternal pelvic canal; thus it is dangerous or impossible for the fetus to progress to a vaginal method of delivery.
_
C92749
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cephalo-Pelvic Disproportion
A balloon type pouch or bulge in the wall of a cerebral artery.
_
C101022
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cerebral Arterial Aneurysm
An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke.
_
C2936
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cerebral Arteriovenous Malformation
Atrophy of the cerebrum caused by focal or generalized neuronal loss.
_
C98273
Cortical Atrophy
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cerebral Atrophy
A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.
_
C34460
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Cerebral Palsy
A balloon type pouch or bulge in the wall of a cerebral vein.
_
C101023
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cerebral Venous Aneurysm
A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. Infarction or hemorrhage may be demonstrated either directly by imaging, laboratory, or pathologic examination in patients with symptom duration less than 24 hours, or inferred by symptoms lasting greater than or equal to 24 hours (or fatal within 24 hours) that cannot be attributed to another cause. Diagnostic tests include CT scan, MRI, angiography, and EEG to locate and evaluate the extent of the hemorrhagic or ischemic damage in the brain parenchyma, coagulation studies, complete blood count, comprehensive metabolic panel, and urinalysis.
_
C3390
Stroke
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cerebrovascular Accident
A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.
_
C2938
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cerebrovascular Disorder
A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.
_
C9039
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Cervical Carcinoma
A medical device with a small rubber cap that fits over the cervix to block sperm from entering the cervical os.
_
C92757
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Contraceptive Cap
A stretching and opening of the cervical os during childbirth in preparation for delivery of the baby; the diameter is measured in centimeters.
_
C92750
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cervical Dilation
A shortening and thinning of cervix due to the action of uterine contractions during active labor to allow for fetal descent.
_
C92751
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cervical Effacement
Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.
_
C3782
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Cervical Intraepithelial Neoplasia
A congenital abnormality in the cervical region of the spine in which the meninges protrude through a defect in the spinal column.
_
C101210
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cervical Meningocele
Herniation of spinal cord tissue and meninges through a defect in the cervical region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.
_
C98875
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cervical Myelocele
A congenital abnormality in the cervical region of the spine in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
_
C101202
Cervical Meningomyelocele
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cervical Myelomeningocele
A variation in the dimensions of the uterus.
_
C92754
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Change in Uterine Shape
The distinguishing qualities or prominent aspect of a person, object, action, process, or substance.
_
C25447
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Characteristic
A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.
_
C84570
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arnold-Chiari Malformation
A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rush, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.
_
C97132
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Chicken Pox Infection
The administration of a live attenuated viral vaccine to prevent herpes zoster infection.
_
C92915
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Varicella Zoster Virus Immunization
A human descendant (son or daughter) of any age.
_
C42708
NICHD Pediatric Terminology
Offspring
Observed actions from individuals between 2 and 18 years of age.
_
C90346
NICHD Pediatric Terminology
Behavior during Childhood
A general term that usually refers to named landmark events during development of an organism.
_
C43531
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Developmental Stage
The time period between the beginning of infancy and the end of adolescence.
A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence.
C89345
NICHD Pediatric Terminology
Childhood
Similar to depression in adults, childhood depression is characterized by a prolonged depressed or irritable mood accompanied by a significant loss of interest in activities, changes in appetite or sleep, decreased energy, feelings of worthlessness, and/or recurrent thoughts of death or suicide.
_
C97163
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Childhood Depression
A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism.
_
C97164
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Childhood Disintegrative Disorder
A category of psychiatric disorders which includes disorders most commonly identified in infancy, childhood, or adolescence.
_
C92190
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Pediatric Psychiatric Disorder
Having a high amount of body fat during childhood.
_
C84449
NICHD Pediatric Terminology
Pediatric Obesity
Schizophrenia occurring in childhood.
_
C35004
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Childhood Schizophrenia
A viral infection that occurs during childhood.
_
C96411
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pediatric Viral Infection
Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.
_
C83006
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cholestasis
A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins.
_
C34708
Disorder of Cholesterol Synthesis
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hyperlipoproteinemia Type II
A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
_
C84632
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Chondrodysplasia Punctata
A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations.
_
C84684
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ellis-Van Creveld Syndrome
Inflammation of the fetal sac membranes.
_
C26720
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Chorioamnionitis
The extraction of placenta tissue containing the chorionic villi from the maternal uterus in early pregnancy to screen for fetal genetic defects.
_
C92755
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Chorionic Villus Sampling
An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.
_
C26909
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Uveitis
An inflammatory process that affects the choroid.
_
C35111
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Posterior Uveitis
An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.
_
C2950
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cytogenetic Abnormality
A non-neoplastic disorder of the lungs. Representative examples include chronic obstructive A persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis.
Chronic lung disease (CLD) is a general term for long-term respiratory problems in premature babies. It is also known as bronchopulmonary dysplasia (BPD).Chronic lung disease is a condition in which damaged tissue in a newborn baby's lungs causes breathing and health problems. The lungs trap air or collapse, fill with fluid, and produce extra mucus.
C98541
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Chronic Lung Disorder
A milky pleural effusion resulting from accumulation of lymph fluid in the pleural cavity. Causes include malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, sarcoidosis, and congenital causes.
_
C79546
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Chylothorax
Surgical removal of the prepuce (foreskin) of a male; the foreskin is the fold of skin covering the glans of the penis.
_
C87068
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Circumcision
A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.
_
C84639
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Citrullinemia
A large and densely populated urban area; a city specified in an address.
_
C25160
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
City
A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.
_
C87175
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cleft Lip
A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development.
_
C87069
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cleft Palate
Any one of several evaluation/assessment tools used to ascertain a patient's condition or diagnosis.
_
C20993
NICHD Pediatric Terminology
Research or Clinical Assessment Tool
The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition.
_
C77140
Evaluation_Finding
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Clinical Test Result
A form of involuntary muscular movement characterized by alternating contractions and relaxation in rapid succession. In the context of reflex testing, the ability to elicit clonus indicates injury to the nerve tracts above the point at which the reflex was initiated.
_
C34484
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Clonus
An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract.
_
C34491
Finger_Clubbing
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Clubbing of Fingers
The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.
_
C84641
Talipes_Equinovarus
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Clubfoot
A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.
_
C2902
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Coagulation Disorder
Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.
_
C27215
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Coagulation Factor Deficiency
Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.
_
C84567
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aortic Coarctation
A very rare syndrome characterized by eye abnormalities that lead to vision impairment. These abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris to the lens and glaucoma.
_
C84644
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cogan-Reese Syndrome
The examination of the cognitive capacities or deficits of an individual through the application of tests that probe that individual's ability to perform various mental activities such as perception, learning, and reasoning.
_
C62736
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cognitive Assessment
The evolution of an individual's problem solving skills, memory, language development, and ability to process information about their environment.
_
C81241
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cognitive Development
The date on which the sample or data was collected.
_
C81286
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Collection Date
The hour, minute, and/or second at which the sample or data was collected.
_
C81287
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Collection Time
A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.
_
C75100
NICHD Pediatric Terminology
Neonatal Research Network Terminology
CHARGE Syndrome
A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.
_
C98878
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Coloboma of the Eyelid
A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.
_
C98879
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Coloboma of the Iris
A pathologic fibrous band that impedes passage of intestinal contents through the colon.
_
C101305
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Colonic Band
Narrowing of the lumen of colon.
_
C78243
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Colonic Stenosis
A pathologic fibrous net that impedes passage of intestinal contents through the colon.
_
C101315
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Colonic Web
A thick, protein-rich substance secreted by the breasts during the second half of pregnancy and for a few days after birth before the breast milk comes in. It contains antibodies which serve to give the baby protection from disease and also has a laxative effect on the colon which helps to expel the plug of meconium and facilitate the establishment of normal bowel movements.
_
C32348
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Human Colostrum
A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves.
_
C101029
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Atrioventricular Septal Defect
A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.
_
C98880
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Persistent Truncus Arteriosus
An umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects.
_
C99542
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Common Ventricle Disorder
An electrocardiographic finding of complete blockage of electrical impulse conduction from the atria to the ventricles.
_
C50501
Non-Congenital Complete Atrioventricular Block
NICHD Pediatric Terminology
Neonatal Research Network Terminology
AV Block Third Degree
Atrioventricular septal defect in which the atrioventricular junction is shared evenly between the left ventricle and right ventricle.
_
C101030
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Complete Atrioventricular Canal Defect Balanced
Atrioventricular septal defect in which there is usually a single dominant ventricle and a hypoplastic ventricle.
_
C101031
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Complete Atrioventricular Canal Defect Unbalanced
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.
_
C101223
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Complete Trisomy 13 Syndrome
A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year.
_
C101362
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Complete Trisomy 18 Syndrome
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.
_
C101222
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Complete Trisomy 21 Syndrome
Any disease or disorder that occurs during the course of (or because of) another disease.
_
C2959
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Complication
A fetal position during delivery in which there are multiple fetal body parts that descends down the birth canal along with the main presenting part. Usually, this includes usually an extremity.
_
C92756
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Compound Fetal Presentation
Fertilization of an ovum by a spermatozoon resulting in formation of a viable zygote.
_
C16465
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Conception
The process of conceiving a baby.
_
C92930
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Method of Conception
A contraceptive device consisting of a thin rubber or latex sheath worn over the penis during intercourse.
_
C28258
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Condom
A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.
_
C89329
NICHD Pediatric Terminology
Conduct Disorder
Hearing loss caused by a problem in the outer ear or middle ear. Conductive losses usually affect all frequencies to the same degree. These losses are not usually severe.
_
C27645
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Conductive Hearing Loss
A mental state characterized by a lack of clear and orderly thought and behavior.
_
C37928
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Confusion
Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.
_
C2849
Congenital Anomalies of Fetus; Congenital Deformity; Congenital Malformation
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Abnormality
A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia.
_
C98882
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Lung Malformation
A heart or vascular abnormality which is inborn or present at birth.
_
C35729
Congenital Anomaly of Cardiovascular System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Cardiovascular Abnormality
An abnormality of the digestive system that is present at birth or detected in the neonatal period.
_
C97171
NICHD Pediatric Terminology
Congenital Gastrointestinal Disorder
An abnormality of the genitourinary system that is present at birth or detected in the neonatal period.
_
C35107
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Congenital Genitourinary Abnormality
An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period.
_
C89337
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Musculoskeletal Defect
An abnormality of the nervous system that is present at birth or detected in the neonatal period.
_
C97172
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Nervous System Disorder
A disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis.
_
C103185
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Reproductive System Abnormality
An abnormality of the respiratory system that is present at birth or detected in the neonatal period.
_
C97173
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Respiratory System Disorder
A skin abnormality that is present at birth or detected in the neonatal period.
_
C97174
NICHD Pediatric Terminology
Congenital Skin Disorder
An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra.
_
C98885
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Abnormality of the Urinary System
An abnormality of the superior or inferior vena cava that is present at birth. Representative examples include persistent left superior vena cava, absence of infrarenal inferior vena cava, or absence of the entire inferior vena cava.
_
C98886
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Abnormality of Vena Cava
A disorder of the eye that is present at birth. Representative examples include congenital cataract, congenital glaucoma, and astigmatism.
_
C98887
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Eye Disorder
An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.
_
C99028
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Agenesis
An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.
_
C99009
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Penile Agenesis
Congenital absence of the trachea.
_
C35376
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tracheal Agenesis
A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.
_
C34360
Adrenogenital Disorder
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Adrenal Gland Hyperplasia
A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth.
_
C98585
Total Anomalous Pulmonary Venous Return
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Total Anomalous Pulmonary Venous Return
A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.
_
C98818
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aortic Valve Atresia
A malformation characterized by the absence of a normal opening in a part of the colon.
_
C101024
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Colon Atresia
A malformation characterized by the absence of a normal opening in a part of the duodenum.
_
C101025
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Duodenal Atresia
A malformation characterized by the absence of a normal opening in a part of the ileum.
_
C101026
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ileal Atresia
A malformation characterized by the absence of a normal opening in a part of the jejunum.
_
C101027
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Jejunal Atresia
Congenital atresia of the larynx. It is fatal unless tracheostomy is performed immediately after birth.
Laryngeal atresia is a congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis.
C98972
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Larynx Atresia
A congenital heart defect characterized by the complete atresia of the mitral valve.
A cogenital defect where the valve (mitral) which connects the two chambers on the left side of the heart (atrium and ventricle) is closed off. The blood is therefore unable to flow between the two heart chambers.
C98992
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mitral Valve Atresia
A rare, fatal congenital malformation in which the trachea is severely underdeveloped.
_
C35754
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tracheal Atresia
A congenital heart defect characterized by the complete lack of formation of the tricuspid valve. Cyanosis is the predominant clinical symptom.
_
C85202
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tricuspid Atresia
Cataract in both eyes that are present at birth.
_
C101194
Cataract, Congenital, Bilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Bilateral Cataracts
A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts.
_
C34421
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Biliary Atresia
Cataract that is present at birth.
_
C98888
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Cataract
A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities.
_
C98889
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Central Hypoventilation Syndrome
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
_
C98890
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Cerebellar Hypoplasia
Congenital cystic dilatation of the hepatic duct or bile duct.
_
C2943
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Choledochal Cyst
Chylothorax that is present at birth.
_
C98891
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Chylothorax
A bleeding disorder that is diagnosed during childhood. the presenting symptom is excessive bleeding.
C103172
Congenital Bleeding Defect
NICHD Pediatric Terminology
Congenital Bleeding Disorder
An electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders.
_
C99265
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Complete Atrioventricular Block
An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
_
C97075
Connective Tissue Hereditary Disorder
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Connective Tissue Disorder
A congenital malformation that is present in the lungs of the newborn. It is characterized by a spectrum of lesions that range from single or multiple cysts to bulky overgrowth of bronchiole-like structures. Signs and symptoms include respiratory distress, recurrent pulmonary infections, dyspnea, and failure to thrive.
_
C98892
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Cystic Adenomatoid Malformation of the Lung
Diaphragmatic hernia that is present at birth.
_
C98893
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Diaphragmatic Hernia
A congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic.
_
C98924
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Esophageal Duplication
A rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic.
_
C98960
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intestinal Duplication
Partial or complete paralysis of the facial muscles of one side of an individual's face that is present at birth. It is caused by damage to the seventh cranial nerve.
_
C101198
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Facial Nerve Palsy
A hamartomatous lesion which is present at birth.
A benign tumor-like nodule composed of an overgrowth of mature cells and tissues which is present at birth.
C40425
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Hamartoma
A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.
_
C95834
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Heart Disease
Inherited disorders involving abnormalities of red blood cell function, structure, or production. Some diseases in this group may be associated with bone marrow failure, neutropenia, and/or thrombocytopenia.
_
C61234
NICHD Pediatric Terminology
Congenital Abnormalities of Erythrocyte Differentiation or Function
A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it.
_
C88541
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemihypertrophy
Congenital tracheoesophageal fistula without esophageal atresia.
_
C98948
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital H-type Tracheoesophageal Fistula
Hydrocephalus that is present at birth.
_
C98876
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Hydrocephalus
Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth.
_
C102979
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Hydronephrosis
Dilatation of the ureter caused by obstruction of urine flow.
_
C26927
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hydroureter
An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome.
_
C103266
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congential Hypoplasia Aortic Arch
A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity.
_
C99141
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Radial Hypoplasia
A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.
_
C26734
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Hypothyroidism
A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.
_
C84766
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hydroa Vacciniforme
Narrowing of the lumen of the ileum that is present at birth.
_
C102984
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Ileal Stenosis
Dysfunction of the aortic valve, with incomplete valve closure resulting in valvular regurgitation.
_
C51223
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aortic Insufficiency
The backflow of blood from the pulmonary artery into the right ventricle, owing to insufficiency of the pulmonic semilunar valve.
_
C50848
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Valvular Regurgitation
Narrowing of the lumen of the jejunum that is present at birth.
_
C102985
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Jejunal Stenosis
A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis.
_
C98895
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Lobar Emphysema
A lymphangioma affecting several anatomic sites.
_
C8373
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lymphangiomatosis
A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities.
_
C98897
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thumb Hypoplasia
A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.
_
C99267
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Malformation Syndrome
A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause.
_
C101329
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Malformation Syndrome due to Known Exogenous Cause
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.
_
C34816
Inborn_Error_of_Metabolism
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Congenital Metabolic Disorder
Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.
_
C98898
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Methemoglobinemia
A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis.
_
C35337
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Nephrotic Syndrome
A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.
_
C98997
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Omphalocele
A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis.
_
C99006
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pelvic Kidney
A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities.
_
C99010
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Penoscrotal Transposition
Damage to the phrenic nerve that is present at birth.
_
C103156
Phrenic Nerve Injury, Congenital
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Phrenic Nerve Injury
Damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth.
_
C101199
Phrenic Nerve Palsy, Congenital
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Phrenic Nerve Palsy
A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion.
_
C3944
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Melanocytic Nevus
A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction.
_
C99021
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Posterior Urethral Valves
Usually mild scoliosis that disappears when the person bends forward or sideways. The spine is structurally normal.
_
C98899
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Postural Scoliosis
A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress.
_
C99034
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Pulmonary Lymphangiectasia
A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.
_
C97124
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bronchopulmonary Sequestration
A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
_
C84978
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Osteochondrodysplasia
An electrocardiographic finding of a tachycardia that originates above the ventricles that is present at birth.
_
C101197
Congenital SVT; Supraventricular Tachycardia (SVT), Congential
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Supraventricular Tachycardia
An inherited disorder that presents with systemic manifestations.
An inherited disorder that affects in multiple tissue types or in multiple organ systemsis, or affects the body as a whole.
C97151
NICHD Pediatric Terminology
Congenital Systemic Disorder
Cataract in one eye that is present at birth.
_
C101195
Cataract, Congenital, Unilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Unilateral Cataract
Blockage of the opening between the ureter and the bladder resulting in the reduction or prevention of the urine flow from the ureter to the bladder.
_
C98901
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ureterovesical Obstruction
An electrocardiographic finding of a tachycardia that originates in the ventricles that is present at birth.
_
C101196
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital Ventricular Tachycardia
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
_
C3080
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congestive Heart Failure
A rare phenomenon in which the bodies of two identical twins are joined in the uterus. Approximately half of the cases are stillborn.
_
C98903
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Conjoined Twins
A category of vaccines created by covalently attaching an antigen from an organism to a carrier protein from the same organism to aid in the delivery of the immunogen.
_
C1455
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Conjugate Vaccine
A congenital or acquired disorder characterized by abnormalities in one or more of the elements of the connective tissues.
_
C26729
Disorder of Connective Tissue
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Connective Tissue Disorder
The prevention of conception or impregnation by the use of devices or drugs or surgery.
_
C37932
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Contraception
A medical device that is inserted into the uterus to prevent pregnancy.
A contraceptive device, which is shaped like a coil, and is inserted into the uterus to prevent pregnancy.
C92758
Loop
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Contraceptive Coil
A device designed to prevent conception through local or systemic effect, such as a barrier contraceptive, an intrauterine device, or a means of preventing ovulation (e.g., birth control pill).
_
C42734
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Contraceptive Device
A drug implant that acts as a birth control device and which is inserted under the skin for drug delivery into the body.
_
C92759
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Contraceptive Implant
A dermal patch that contains estrogen and progestin hormones for release and absorption through the skin and into the body to prevent pregnancy.
A a medicated adhesive patch that is placed on the skin to deliver estrogen and progestin hormones for release and absorption through the skin and into the body to prevent pregnancy.
C92760
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Contraceptive Patch
A sponge impregnated with an antispermicidal agent; it is designed to be placed into the vaginal canal to prevent live sperm from entering the uterus.
A contraceptive device, made of plastic, contains an antispermicidal agent, designed to be placed into the vaginal canal to prevent live sperm from entering the uterus.
C69055
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Contraceptive Sponge
The number of uterine contractions recorded over a period of time, usually in minutes; measured from the start of one contraction to the start of the next.
_
C92905
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Contraction Frequency
The duration of an uterine contraction expressed as mmHg.
_
C92906
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Contraction Intensity
The time interval between uterine contractions during labor.
_
C92907
Relaxation Time between Uterine Contractions
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Contraction Interval
A test done to check for the fetal well being after administering oxytocin or nipple stimulus to induce uterine contractions in the mother. An external fetal heart rate monitor is used to assess the fetal heart rate in response to the uterine contractions.
_
C92908
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Contraction Stress Test
Substances administered during imaging procedures that allows delineation of internal structures. Contrast agents appear opaque due to the difference in absorption of X-rays or other electromagnetic waves and surrounding tissue.
_
C390
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Contrast Agent
A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
_
C84756
Disorder of Copper Metabolism
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hepatolenticular Degeneration
Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.
_
C34478
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Chronic Pulmonary Heart Disease
A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.
_
C84651
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cor Triatriatum
A type of pregnancy where the embryo develops in the cornu of uterus.
_
C92761
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cornual Pregnancy
Any deviation from normal in the coronary vasculature.
_
C101314
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Coronary Anomaly
The bones that form the head, made up of the bones of the braincase and face.
_
C12789
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Skull
A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.
_
C26733
Disorder of Cranial Nerve
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cranial Nerve Disorder
A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth.
_
C98907
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Craniorachischisis
A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull.
_
C84655
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Craniosynostosis
An emergency cesarean section that is carried out urgently in cases of fetal distress or severe maternal complication that is life threatening to either or both of them.
_
C92762
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Crash Caesarean Section
A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism.
_
C84653
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Craniofacial Dysostosis
A measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. This measurement is useful in determining gestational age.
_
C81242
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Crown to Rump Length Measurement
The characteristic sign of impending birth during the second stage of labor. The presenting part of the head of fetus is visible and firmly rimmed by the maternal vaginal wall.
_
C92763
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Crowning during Childbirth
A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly.
_
C98908
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cryptophthalmos Syndrome
A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced amount of oxygenated hemoglobin in the blood.
_
C26737
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cyanosis
Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body.
_
C87065
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cyanotic Body
Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs.
_
C87066
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Cyanotic Limbs
A sac-like closed membranous structure that may be empty or contain fluid or amorphous material.
_
C2978
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cyst
A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.
_
C2975
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cystic Fibrosis
A genetic test to determine if either parent has the trait of cystic fibrosis carrier.
_
C92764
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cystic Fibrosis Carrier Screening
A congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.
_
C103233
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cystic Fibrosis with Meconium Ileus
A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.
_
C3724
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cystic Hygroma
Necrosis and softening of the white matter around the ventricles in the brain associated with cystic changes.
_
C99112
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cystic Periventricular Leukomalacia
A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
_
C98910
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cytochrome-C Oxidase Deficiency
A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.
_
C75012
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dandy-Walker Malformation
The information contained in a data field. It may represent a numeric quantity, a textual characterization, a date or time measurement, or some other state, depending on the nature of the attribute.
_
C49100
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Data Value
The particular day, month and year an event has happened or will happen.
_
C25164
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Date
A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
_
C75016
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cornelia De Lange Syndrome
An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.
_
C27644
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Deafness
The historical fact that a legal or consanguineous brother or sister has died.
_
C81244
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Deceased Sibling
A laboratory finding indicating the presence of lower than normal bone mineral density.
_
C98911
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Decreased Bone Density
A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.
_
C84523
Hydroxymethylglutaric Aciduria
NICHD Pediatric Terminology
Neonatal Research Network Terminology
HMG-CoA Lyase Deficiency
A position of the fetus during the labor and delivery process where the fetal back is straight, the head position is deflexed and upright on the spine.
_
C92765
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Deflexed Fetal Attitude
An anatomic abnormality that is either present at birth or appears later in life.
_
C36287
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Congenital or Acquired Anatomic Abnormality
A disorder characterized by the progressive loss of function and/or structure of the affected tissues.
_
C27090
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Degenerative Disorder
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
_
C26740
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dehydration
The natural process whereby the placenta detaches from the uterus. It occurs during the third stage of childbirth and shortly after delivery of the fetus.
_
C92766
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Delivery of Placenta
Description of the method by which a fetus is delivered.
_
C81179
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Birth Method of Delivery
The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income).
_
C16495
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Demographics
A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.
_
C34527
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Demyelinating Disorder
A test developed at the University of Colorado Medical Center to assess the developmental status of infants and children from birth to six years of age.
_
C81245
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Denver Development Screening Test
A melancholy feeling of sadness and despair.
_
C2982
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Depression
A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.
_
C9011
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Dermoid Cyst
The process by which the ovarian follicle becomes the corpus luteum. It occurs after ovulation.
_
C92923
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Development of Corpus Luteum
A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.
_
C92561
Developmental Dyspraxia
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Developmental Coordination Disorder
A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones.
_
C89330
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Developmental Disorder
Physical or behavioral signs of maturation or skills gained by a developing child, which should be achieved by a given age that provide important information regarding the child's development. The milestones are different for each age range. Failure to achieve a particular milestone by a given age is indicative of developmental delay.
_
C90342
NICHD Pediatric Terminology
Developmental Milestone
A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.
_
C84669
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dextrocardia
A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position.
_
C101032
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dextrocardia Situs Solitus
A cyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery.
_
C99096
D-Transposition of the Great Vessels
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dextro-Transposition of the Great Arteries
A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles.
_
C101185
D-Transposition of the Great Vessels with Intact Ventricular Septum
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dextro-Transposition of the Great Vessels with Intact Ventricular Septum
A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with a pathologic opening between the cardiac ventricles.
_
C101186
D-Transposition of the Great Vessels with Ventricular Septal Defect
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dextro-Transposition of the Great Vessels with Ventricular Septal Defect
A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.
_
C43263
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Diabetes Insipidus
The investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation.
_
C15220
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Diagnosis
Methods, procedures, and tests performed to diagnose disease, disordered function, or disability.
_
C18020
NICHD Pediatric Terminology
Diagnostic Procedure
A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.
_
C98912
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Diaphragm Eventration
A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse.
_
C34687
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Diaphragmatic Hernia
A condition of frequent and watery bowel movements.
_
C2987
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Diarrhea
A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.
_
C98913
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Diastematomyelia
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
_
C2989
NICHD Pediatric Terminology
Neonatal Research Network Terminology
DiGeorge Syndrome
Symptoms, physical examination results, and/or laboratory test results related to the gastrointestinal system.
_
C36279
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gastrointestinal System Finding
A characteristic sign of impending birth where the anal opening becomes wider due to increased pressure in the perineal region during the second stage of labor.
_
C92767
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Dilated Anus
Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.
_
C84673
Congestive Cardiomyopathy
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dilated Cardiomyopathy
A Gram-positive bacterial infection caused by Corynebacterium diphtheria. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.
_
C34541
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Diphtheria
A vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and acellular pertussis antigens, adsorbed on aluminum phosphate, with active immunizing activity against diphtheria, tetanus and pertussis. The acellular pertussis vaccine components, produced by Bordetella pertussis, are detoxified pertussis toxin (PT), filamentous hemagglutinin (FHA), pertactin (PRN) and fimbriae types 2 and 3 (FIM). Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin, diphtheria toxin and B. pertussis antigens.
_
C91717
DTP vaccine
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Diphtheria Toxoid/Tetanus Toxoid/Acellular Pertussis Vaccine Adsorbed
A vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and inactivated pertussis antigens.
_
C97122
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Diphtheria Toxoid/Tetanus Toxoid/Inactivated Pertussis Vaccine
A vaccine containing detoxified tetanus toxoid and detoxified diphtheria toxoid adsorbed on aluminum phosphate with active immunizing activity against diphtheria and tetanus. Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin and diphtheria toxin.
_
C91718
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Diphtheria Toxoid/Tetanus Toxoid Vaccine Adsorbed
A rare congenital cardiovascular abnormality in which the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle.
_
C98914
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Discordant Ventriculoarterial Connection
A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum.
_
C34698
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hip Dislocation
A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.
_
C2992
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Disseminated Intravascular Coagulation
A collection of information about a patient's doctor.
_
C81273
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Doctor's Information
A congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter.
_
C98915
Double Renal Pelvis
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Duplex Kidney
A rare congenital cardiovascular abnormality in which both the aorta and the pulmonary artery arise from the right ventricle.
_
C98916
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Double Outlet Right Ventricle
A congenital abnormality characterized by the presence of two separate ureters draining a kidney.
_
C98917
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Duplicated Ureter
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004
_
C2993
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Down Syndrome
Using pharmaceutical agents to influence uterine contractions and start labor during the childbirth process.
_
C92768
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Drug Induced Induction of Labor
A description of an individual's current and past use and/or abuse of drugs and chemicals. This includes prescription medication, illicit drugs and recreational substances.
_
C81246
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Drug Use History
A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.
_
C35046
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Substance Withdrawal Syndrome
Withdrawal signs and symptoms that present during the neonatal period and are caused by drug use by the pregnant mother.
_
C101321
DWN
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Drug Withdrawal
Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction.
_
C99110
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Drug Induced Thrombocytopenia
Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).
_
C101045
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Drug Induced Methemoglobinemia
The expulsion of the placenta with presentation of the maternal rough side first, rather than the usual fetal side of the placenta.
_
C92845
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Placental Duncan Mechanism
A pathologic fibrous band that impedes passage of intestinal contents through the duodenum.
_
C101275
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Duodenal Band
Narrowing of the lumen of the duodenum.
_
C78260
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Duodenal Stenosis
Partial or complete obstruction of the duodenal lumen due to the presence of a membranous web.
_
C98918
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Duodenal Web
The length of time from the beginning to the end of a single uterine contraction during the labor and childbirth process.
_
C92769
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Duration of Uterine Contraction
Short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition.
_
C34554
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Dwarfism
A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.
_
C97165
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Dyscalculia
A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.
_
C96410
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Dyslexia
A sense organ needed for the detection of sound and for establishing balance. The outer ear consists of the auricle, the ear canal as well as the tympanic membrane. The middle ear is made up of an air-filled cavity behind the tympanic membrane that contains the ossicles (malleus, incus and stapes). The inner ear is made up of the cochlea needed for hearing and the vestibular apparatus required for balance.
_
C12394
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Ear
A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.
_
C87071
Ear_Pit
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Ear Dimple
A transitional time in an individual's life between childhood and adolescence. This phase marks the start of physical, physiological and psychological changes that characterize pubertal growth and development.
A human life stage that begins at twelve years of age and continues until eighteen complete years of age. This phase marks the start of physical, physiological and psychological changes that characterize pubertal growth and development.
C89331
NICHD Pediatric Terminology
Early Adolescence
A time period in a child's life that is accepted to be approximately between 1 and 5 years of age.
A human life stage that begins at two years of age and continues until five complete years of age.
C89346
NICHD Pediatric Terminology
Early Childhood
A decrease in the fetal heart rate that occurs in the initial stages of uterine contractions.
_
C92770
Early_Fetal_Heart_Deceleration
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Early Fetal Heart Rate Deceleration
The early stages in the recuperation process of a mother after her pregnancy and delivery.
_
C92924
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Early Post-Partum Recovery
A characteristic complaint in a fertile woman that is indicative of a pregnancy.
_
C92771
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Early Pregnancy Symptom
A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.
_
C89332
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Eating Disorder
A rare congenital heart malformation characterized by apical displacement of the opening of the tricuspid valve. The defect involves both the right ventricle and the tricuspid valve, and can lead to cardiomyopathy and tachyarrhythmias.
_
C84681
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ebstein Anomaly
A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.
_
C97166
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Echolalia
A potentially life-threatening disorder in pregnant or puerperal women manifested by convulsions in association with hypertension, edema, and/or proteinuria.
_
C87167
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Eclampsia
A group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands.
_
C84683
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ectodermal Dysplasia
An electrocardiographic finding of atrial tachycardia that does not originate from the sinoatrial node.
_
C99113
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ectopic Atrial Tachycardia
An abnormal pregnancy in which the egg is implanted anywhere outside the corpus uteri.
_
C34945
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Ectopic Pregnancy
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities.
_
C75000
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Split-Hand/Foot Malformation
Accumulation of an excessive amount of watery fluid in cells or intercellular tissues.
_
C3002
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Edema
An indication of the years of schooling completed in graded public, private, or parochial schools, and in colleges, universities, or professional schools.
_
C17953
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Education Level
An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.
_
C34568
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ehlers-Danlos Syndrome
A type of hinge joint located between the forearm and upper arm.
_
C32497
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Elbow Joint
A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia).
_
C27120
Disoder of Electrolytes
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Electrolyte Disorder
A result of a test that is higher than a previous value or a normal range of values.
_
C81326
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Elevated Test Result
A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form.
Elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia.
C3004
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Elliptocytosis
Refers to a step in the process of in vitro fertilization (IVF) whereby one or several embryos are removed from an embryo culture and placed into the uterus of the female with the intent to establish a pregnancy.
_
C16541
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Embryo Transfer
A stage of life in which an embryo is developing. The stage terminates with the complete formation of the embryo.
A human life stage, during prenatal development, that begins at fertilization and typically continues until the end of eight weeks after fertilization, with full formation of the embryo.
C99135
NICHD Pediatric Terminology
Embryonic Stage
A body part, organ or organ component that is formed during the embryonic stage of life of an organism.
_
C13229
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Embryonic Structure
Body tissue, region, surface, cavity, fluid, organ, or collection of organs present in, or associated with, an embryo.
_
C34144
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Embryologic Structure or System
A cesarean section that is unanticipated and carried out during the labor process when it is determined that a vaginal method of delivery would be risky.
_
C92772
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Emergency Caesarean Section
A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.
_
C84687
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Encephalocele
Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.
_
C98920
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Encephalomalacia
A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries.
_
C26920
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Encephalopathy
Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.
_
C98921
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Endemic Cretinism
A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure.
_
C98922
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Endocardial Fibroelastosis
Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs.
_
C3009
Disorder of Endocrine System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Endocrine Disorder
The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.
_
C3014
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Endometriosis
Increasing girth of the mid section of an individual.
_
C35435
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Enlarging Abdomen
An increase in the overall dimensions or volume of the uterus compared to normal.
_
C92773
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Enlarged Uterus
An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.
_
C67383
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Epidermolysis Bullosa
An anesthetic procedure that involves administering pharmaceutical agents into the epidural space of the spinal canal. Frequently administered agents include local anesthetics and analgesics.
_
C15642
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Epidural Block
Intracranial hemorrhage into the epidural space.
_
C50555
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Extradural Hemorrhage
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
_
C3020
Seizure_Disorder
NICHD Neurological Development Terminology
Neonatal Research Network Terminology
Epilepsy
A surgical widening of the introitus by cutting into the musculature of the maternal perineum with a linear midline or oblique incision so as to facilitate vaginal childbirth.
_
C92774
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Episiotomy
A rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly.
_
C98923
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Epispadias
A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
_
C101039
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Escobar Syndrome
A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.
_
C87072
Congenital Atresia of Esophagus
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Esophageal Atresia
An abnormal communication between the esophagus and another organ or anatomic site.
_
C79574
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Esophageal Fistula
Abnormally dilated vein(s) of the esophagus.
_
C53506
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Esophageal Varix
A thin membrane that is present in the esophageal lumen. It is composed of mucosa and submucosa and it may be associated with Plummer-Vinson syndrome.
_
C98925
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Esophageal Web
An acute or chronic inflammatory process affecting the esophageal wall.
_
C9224
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Esophagitis
A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease.
_
C16564
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Ethnic Group
Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria.
_
C25214
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Evaluation
A symptom of gastrointestinal dysfunction seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs.
_
C87073
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Excessive Sucking
A superficial traumatic injury to the skin caused most often by scratching, but also by abrasions or by a chemical or thermal burn.
_
C34599
Excoriation_of_Skin
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Excoriation
A protrusion of the eyeball from the socket.
_
C43262
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Exophthalmos
The projected date of delivery for a pregnant female.
_
C81247
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Expected Date of Confinement
A position of the fetus during the labor and delivery process where the head is extended back.
_
C92775
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Extended Fetal Attitude
A manual method of maneuvering the fetus from outside the mother's abdomen to convert a breech into a cephalic presentation.
_
C92776
External version
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
External Fetal Rotation
The organ of sight or vision.
_
C12401
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Eye
Symptoms, physical examination results, and/or laboratory test results related to the eye.
_
C99208
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Eye Finding
The practice of placing antibiotic eye drops or ointment in a neonate's eyes after birth.
_
C87074
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Ophthalmic Prophylaxis
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
_
C84701
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fabry Disease
A fetal position during delivery in which the face of the fetus is first to descend into the birth canal.
_
C92778
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Face Presentation
Partial or complete paralysis of the facial muscles of one side of an individual's face that is caused by trauma.
_
C101316
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Facial Nerve Palsy due to Trauma
Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.
_
C26769
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Facial Nerve Paralysis
Human F5 Leiden allele is a variant form of the F5 gene that is located in the vicinity of 1q23 and is approximately 75 kb in length. This allele, which encodes coagulation factor V Leiden protein, is involved in hypercoagulability due to resistance to degradation by activated protein C.
_
C91334
NICHD Pediatric Terminology
Neonatal Research Network Terminology
F5 Leiden Allele
An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an x-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.
_
C27146
Hereditary Factor VIII Deficiency Disease
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemophilia A
A clinical finding indicating less than normal growth in infancy or early childhood
_
C85038
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Failure to Thrive
Blockage of the normal flow of the contents in the fallopian tube.
_
C78293
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fallopian Tube Obstruction
A relatively painless, irregular tightening sensation felt by the pregnant mother over the abdomen after the 28th week of pregnancy, that lasts about a minute each time
_
C92779
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
False Labor
That state, following a period of mental or bodily activity, characterized by a lessened capacity for work and reduced efficiency or accomplishment, usually accompanied by a feeling of weariness, sleepiness, or irritability.
_
C3036
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fatigue
An inherited metabolic disorder that affects the metabolism of the lipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.
_
C97092
Disorder of Fatty Acid Metabolism; Lipid Storage Disease; Sphingolipidosis
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lipid Metabolism Disorder
A description of the technique for the manner in which a subject is administered food.
_
C81267
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Feeding Method
A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both.
_
C16576
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Female
The external female sexual organs.
_
C61600
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Female Genitalia
A non-neoplastic or neoplastic disorder that affects the female genital system. Representative examples of non-neoplastic disorders include infection, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma.
_
C27020
NICHD Pediatric Terminology
Female Reproductive System Disorder
The process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei.
_
C16579
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fertilization
A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.
_
C92780
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Alcohol Spectrum Disorder
A syndrome that can develop in infants whose mothers consumed alcohol during pregnancy. Manifestations of this syndrome include low birth weight, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, behavioral problems and poor motor coordination.
_
C84713
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Alcohol Syndrome
A position assumed by fetal body parts to one another (head, chest, arms and legs) in relation to the chest.
_
C92713
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Attitude
A clinical scoring method to monitor fetal asphyxia using four ultrasonic observations that include fetal breathing, fetal body movements, fetal tone, and amniotic fluid volume. Also included is the non-stress test derived fetal heart rate response to fetal movements.
_
C92925
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Biophysical Profile
A decrease in the fetal heart rate below normal baseline values.
_
C92782
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Bradycardia
The movement of the fetus led by the presenting part into the maternal pelvic cavity during active labor.
_
C92783
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Descent
A non-neoplastic or neoplastic disorder which occurs in the fetus.
_
C92719
Disorder of Fetus
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Disorder
Symptoms indicative of a state of duress to a fetus while in utero.
_
C50563
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Distress
A position adopted by the fetus during labor when its head moves down into the maternal pelvic cavity.
_
C92784
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Engagement
A test or diagnostic examination to assess the health status and well being of the fetus.
_
C92714
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Examination
A change in the position of the head of the fetus as it descends through the maternal pelvic cavity during labor and delivery.
_
C92785
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Extension
A laboratory test to detect fetal prematurity by measuring levels of fetal fibronectin from vaginal and cervical secretions.
_
C92786
Fetal_Fibronectin_Measurement
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Fetal Fibronectin Test
Any intrauterine symptom or result related to the fetus.
_
C92711
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Finding
An observation of the fetal heart that may or may not be abnormal.
_
C92715
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Heart Finding
The number of fetal cardiac beats per minute.
_
C92716
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Heart Rate
An increase in the fetal heart rate above normal baseline values for an extended period.
_
C92788
Fetal_Heart_Acceleration; Fetal Heart Rate Acceleration
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Fetal Heart Rate Acceleration
A decrease in the fetal heart rate less than the normal baseline values.
_
C92789
Fetal_Heart_Deceleration
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Fetal Heart Rate Deceleration
The act of observing and recording the fetal heart rate for determining the baseline values and any variations or other abnormal tracings.
_
C92929
Fetal_Heart_Monitoring; Fetal Heart Rate Monitoring
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Fetal Heart Rate Monitoring
A fetal heart with rate changes from the normal baseline values.
_
C92790
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Heart Rate Variability
The recurrent, measured movements (rhythm) of a beating heart in a fetus.
_
C98926
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Heart Rhythm
The sounds of the fetal heart.
_
C92791
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Heart Tone
The site of fetal cardiac sounds that can be distinctly detected in relation to the maternal abdomen.
_
C92792
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Heart Tone Location
A rare syndrome caused by exposure of the fetus to phenytoin. It manifests with growth developmental abnormalities, cleft lip, and abnormal skull and facial characteristics.
_
C98927
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Hydantoin Syndrome
Hypoxia in utero, caused by conditions such as inadequate placental function (often abruptio placentae), preeclamptic toxicity, prolapse of the umbilical cord, or complications from anesthetic administration.
_
C50564
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Hypoxia
A rare syndrome caused by exposure of the fetus to methotrexate. It is characterized by craniofacial, digital, and skeletal malformations.
_
C98928
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Methotrexate Syndrome
A fetal affliction that has a neurological basis and manifests as a developmental disability.
_
C103236
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Neurodevelopmental Disorder
The position of the fetus in the uterus.
_
C92926
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Position
A reference point for the fetal position when the fetal heart rate is detected above the mother's umbilicus.
_
C92927
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Position above Umbilicus
A reference point for the fetal position when the fetal heart rate is detected below the mother's umbilicus.
_
C92928
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Position below Umbilicus
The first part of the fetus that is visible at the cervical opening during delivery.
_
C92724
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Presentation
A method to assess fetal oxygenation status during labor and delivery using a noninvasive reflectance pulse oximeter.
_
C92794
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Pulse Oximetry
The repositioning of the fetal head attitude immediately after delivery, returning to a normal position in alignment with the rest of its body.
_
C92795
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Restitution
The period during which an embryo is a fetus until birth.
A human life stage, during prenatal development, that typically begins at the beginning of nine weeks after fertilization (full formation of the embryo) and continues until birth.
C89885
NICHD Pediatric Terminology
Fetal Stage
The relationship of the presenting part of the fetus to the maternal ischial spines during labor and delivery.
_
C92717
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Station
An increase in the fetal heart rate above the normal baseline values.
_
C92796
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Tachycardia
A rare syndrome caused by exposure of the fetus to valproic acid in the first three months of the pregnancy. It is characterized by musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features.
_
C98930
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Valproate Syndrome
A rare syndrome characterized by congenital abnormalities caused by fetal exposure to the administration of warfarin to the mother during pregnancy. The congenital abnormalities include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.
_
C98906
Fetal Coumadin Syndrome
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Warfarin Syndrome
An unborn or unhatched vertebrate in the later stages of development showing the main recognizable features of the mature being.
_
C13235
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Fetus
The passage of a substance or infectious agent from the mother to the fetus or newborn.
_
C98977
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Maternal Transmission
The elevation of the body's temperature above the upper limit of normal, usually taken as 37.7 degrees C.
_
C3038
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Fever
A congenital or acquired kidney disorder characterized by the presence of renal cysts.
_
C34750
Congenital Cystic Kidney Disease; Multicystic Kidney
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cystic Kidney Disease
Symptom, signs, test results in a pregnant mother childbirth.
_
C92718
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Finding During Childbirth Labor
A tool to evaluate neonatal abstinence syndrome (NAS), that measures the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse.
_
C89343
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Finnegan Score Measurement
The first time that a neonate is provided nutrition.
_
C81272
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
First Feeding
An initial set of movements by the fetus that is observed by the pregnant mother.
_
C92797
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
First Movement
The stage of the labor and childbirth process when the uterine contractions become strong and regular with cervical effacement and complete dilation of the cervix.
_
C92798
Dilating Stage
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
First Stage of Labor
The period of gestation that ranges from the first day of the last menstrual period in a woman up to the 12th week of her pregnancy.
_
C92799
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
First Trimester
An abnormal communication between the small or large intestine and another organ or cavity.
_
C34732
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intestinal Fistula
An abnormal communication between the skin and another organ or cavity.
_
C98957
Skin Sinus
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cutaneous Fistula
An abnormal communication between the vagina and another organ or cavity.
_
C79847
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vaginal Fistula
The actual time that is five minutes after the birth of a fetus. This period is most commonly referenced during the administration of the APGAR test.
_
C81228
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Five Minutes After Birth
A position of the fetus during the labor and delivery process where the fetal chin is in close relation to its chest; other joints are also in a flexed position. This prepares the fetus to present the smallest diameter for passage through the maternal pelvis.
_
C92800
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Flexed Fetal Attitude
A cardinal movement in labor when the head of the fetus folds towards its chest to assume the smallest anero-posterior diameter for the presenting part during delivery.
_
C92787
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Flexion
The four gaps in the skull of a neonate or fetus where the sutures converge. The bulging or depression of the membranous soft spots can be indicative of intracranial fluid buildup or systemic dehydration.
_
C32621
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Fontanelle
An abnormal desire for eating certain foods.
_
C92801
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Food Craving
The structure found below the ankle joint required for locomotion.
_
C32622
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Foot
The method referring to the delivery of a fetus through the vaginal canal with assistance of obstetrical forceps.
_
C81248
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Forceps Delivery
A stage during labor and childbirth that starts with the delivery of the placenta and lasts about two hours after delivering the baby.
_
C92802
Recovery Stage
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fourth Stage of Labor
A traumatic injury to the bone in which the continuity of the bone is broken.
_
C3046
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fracture
An injury sustained during the birthing process in which the continuity is broken in the clavicle.
_
C102975
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fracture of the Clavicle due to Birth Trauma
A traumatic or pathologic injury to the femur in which the continuity of the femur is broken.
_
C26774
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Femur Fracture
A traumatic or pathologic injury to the femur in which the continuity of the fibula is broken.
_
C26938
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fibula Fracture
A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken.
_
C26795
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Humerus Fracture
An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width.
_
C101317
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fracture of Long Bone due to Birth Trauma
Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.
_
C99039
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Radial Fracture
A traumatic or pathologic injury to the rib in which the continuity of the rib is broken.
_
C34990
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rib Fracture
A traumatic or pathologic injury to the bones of the skull in which the continuity of the bones of the skull is broken.
_
C50745
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Skull Fracture
An injury sustained during the birthing process in which the continuity is broken in the skull.
_
C101318
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fracture of Skull due to Birth Trauma
Traumatic or pathological injury to the tibia in which the continuity of the bone is broken.
_
C99083
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tibial Fracture
A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties.
_
C98931
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Freeman Sheldon Syndrome
A small fold of tissue that limits the movements of an organ or body part; for example, the lingual frenulum connects the tongue to the floor of the mouth and restrains its movement.
_
C87076
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Frenulum
A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.
_
C84720
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Fructose Intolerance
A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations.
_
C98932
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fryns Syndrome
An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances.
_
C61274
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fucosidosis
An infant born after completion of the normal gestational period.
_
C89333
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Full Term Neonate
The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.
_
C101033
Intestinal Obstruction, Functional
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Functional Bowel Obstruction
An abnormality in which a part of a structure in one or both eyes is missing.
_
C98877
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Coloboma of the Eye
A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue.
_
C87077
Congenital_Ankyloblepharon
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Fused Eyelid
An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.
_
C98933
G6PD
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Glucose-6-Phosphate Dehydrogenase Deficiency
The measurement of the amount of galactose in a biologic specimen.
_
C81308
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Galactose Measurement
The measurement of the galactose-1-phosphate uridyltransferase in a biologic specimen.
_
C81251
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Galactose-1-Phosphate Uridyltransferase Measurement
An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.
_
C84723
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Galactosemia
A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.
_
C61254
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Krabbe Disease
An assessment for developmental dysplasia of the hip or a leg-length discrepancy, the patient is placed in a supine position and the ankles are brought to the buttocks with the hips and knees flexed. The result is considered positive when the knees are at different heights.
_
C90497
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Galeazzi Test
An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.
_
C34632
NICHD Pediatric Terminology
Gastroenteritis
A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.
_
C26781
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gastroesophageal Reflux Disease
A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas.
_
C2990
Digestive_System_Disorder; Disorder of Digestive System
NICHD Pediatric Terminology
NICHD Pediatric Terminology
Gastrointestinal Disorder
Bleeding originating from any part of the gastrointestinal system.
_
C48592
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gastrointestinal Hemorrhage
A rupture in the wall of any structure of the gastrointestinal system caused by traumatic or pathologic processes.
_
C79470
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gastrointestinal Perforation
Signs and symptoms associated with disturbances within the gastrointestinal system, which includes the stomach, intestines and all associated organs that aid in digestion.
_
C3368
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gastrointestinal System Signs and Symptoms
A congenital birth defect characterized by the exposure of the fetal intestines outside the abdominal wall through an abdominal wall opening.
_
C84725
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gastroschisis
Actions that render a patient unconscious for the purpose of performing a diagnostic or interventional procedure.
_
C64380
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
General Anesthesia Procedure
The result of observation and overall assessment of a subject's outward aspect including appearance and movements; for example, in a human newborn general appearance includes skin color and tone, range of motion, and spontaneous movements.
_
C87079
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
General Appearance
A term that helps define and render another concept unique.
_
C27993
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
General Qualifier
An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.
_
C92622
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Generalized Anxiety Disorder
Genetic Diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.
_
C3101
Hereditary_Disease
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Genetic Disorder
The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder.
_
C15709
Genetic_Testing
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Genetic Testing
A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.
_
C2960
Condyloma Acuminatum
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Condyloma Acuminatum
The external sex organs.
_
C25177
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Genitalia
A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.
_
C3708
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Germ Cell Tumor
A scale used as an instrument to assess a child's motor and language development, as well as personal-social and adaptive behaviors.
_
C81252
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gesell Developmental Schedule
The period of fetal development in the uterus from the start of conception until its birth.
_
C92804
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Gestational
Diabetes that develops during pregnancy. It usually resolves after delivery.
_
C34942
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Gestational Diabetes Mellitus
A standard determination of fetal age; it is the number of weeks since the first day of the last menstrual period of the mother to the date of interest.
_
C81253
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Gestational Weeks Assessment
Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.
_
C26782
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Glaucoma
A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.
_
C3059
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neuroglial Tumor
An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.
_
C61268
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gaucher Disease
A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia.
_
C99101
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Glutaric Acidemia Type 1
A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly.
_
C99102
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Glutaric Acidemia Type 2
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
_
C61272
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Glycogen Storage Disease
Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.
_
C26785
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Goiter
A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.
_
C84740
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Goldenhar Syndrome
A non-neoplastic or neoplastic disorder that affects the testis or the ovary.
_
C26786
Disorder of Gonads
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gonadal Disorder
A teratoma that arises from the testis or ovary.
_
C98291
Teratoma, Gonads
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Gonadal Teratoma
Intraventricular hemorrhage of the newborn that is limited to the germinal matrix.
_
C99138
Intraventricular (Nontraumatic) Hemorrhage, Grade 1, of Fetus and Newborn
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade 1 Intraventricular Hemorrhage of the Newborn
Intraventricular hemorrhage of the newborn that is found in the ventricles. There is no change in the size of the ventricles.
_
C99139
Intraventricular (Nontraumatic) Hemorrhage, Grade 2, of Fetus and Newborn
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade 2 Intraventricular Hemorrhage of the Newborn
Intraventricular hemorrhage of the newborn that is found in the ventricles. It is associated with dilatation of the ventricles.
_
C99140
Intraventricular (Nontraumatic) Hemorrhage, Grade 3, of Fetus and Newborn
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade 3 Intraventricular Hemorrhage of the Newborn
Vesicoureteral reflux in which there is urine reflux into the ureter only.
_
C98661
Vesicoureteric Reflux, Grade I
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade I Vesicoureteral Reflux
Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces.
_
C98662
Vesicoureteric Reflux, Grade II
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade II Vesicoureteral Reflux
Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present.
_
C98663
Vesicoureteric Reflux, Grade III
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade III Vesicoureteral Reflux
Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present.
_
C98664
Vesicoureteric Reflux, Grade IV
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade IV Vesicoureteral Reflux
Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present.
_
C98665
Vesicoureteric Reflux, Grade V
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Grade V Vesicoureteral Reflux
The metric unit of mass equal to one thousandth of a kilogram. One gram equals approximately 15.432 grains or 0.035 273 966 ounce.
_
C48155
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Gram
An involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age.
_
C81254
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Grasp Reflex
Any of the major arteries or veins attached to the cardiac atria or ventricles. This includes the aorta, superior and inferior vena cava and the pulmonary arteries and veins.
_
C102955
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Great Blood Vessel
A congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery.
_
C99137
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Great Vessels Abnormality
Group B Streptococcus, also known as Streptococcus agalactiae, colonizes the vaginal and gastrointestinal tracts of up to 45% of healthy women and may infect neonates in utero or during delivery, causing neonatal sepsis in 1-2% of colonized neonates. GBS infection may also occur in nonpregnant (particularly elderly) adults with underlying medical conditions, presenting as urinary tract infection, pneumonia, or soft-tissue infection.
_
C87168
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Group B Streptococcal Infection
Screening with a swab from the vaginal and rectal areas in late pregnancy to test for the presence of Group B streptococcal infection.
_
C92805
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Group B Streptococcus Screening
Surgery performed on the female reproductive system.
_
C15332
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Gynecological Surgical Procedure
An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.
_
C80444
Swine flu
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
H1N1 Influenza
A vaccine against serotype b of the Gram-negative bacterium H. influenzae (Hib). Hib vaccines contain polysaccharide-protein conjugate antigens that produce greater host immune responses than first-generation purified polysaccharide vaccine. These vaccines may differ with regard to use of protein carriers, polysaccharides, diluents, and preservatives.
_
C1126
Hib Vaccine; PRP vaccine
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Haemophilus Influenzae B Vaccine
The distal portion of the upper extremity. It consists of the carpus, metacarpus, and digits.
_
C32712
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Hand
A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures.
_
C98934
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Harlequin Ichthyosis
The anterior and superior part of a human bearing the mouth, the brain and sensory organs.
_
C12419
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Head
A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows.
_
C81255
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Head Circumference
The measurement around a neonate's head at birth.
_
C101221
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Birth Head Circumference
Refers to a person's state of physical, mental and social well-being; usually it refers specifically to the state of being in good health, a state of complete physical, mental and social well-being, and does not consist only of the absence of disease or infirmity. In any organism health constitutes a form of homeostasis with inputs and outputs of energy and mass in approximate equilibrium allowing for growth and continued survival. In humans, a subjective feeling of well-being coming from somatic and cognitive perceptions is considered an essential component of health.
_
C25178
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Health
A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.
_
C35731
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Hearing Loss
Any deviation from the normal structure or function of the cardiac system that is manifested by a characteristic set of symptoms and signs.
_
C3079
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heart Disorder
A periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic).
_
C84480
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heart Murmur
The number of heartbeats per unit of time, usually expressed as beats per minute.
_
C49677
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heart Rate
A component of the APGAR score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute.
_
C81309
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heart Rate Score
The recurrent, measured movements (rhythm) of a beating heart.
_
C87081
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Heart Rhythm
Any heart disorder characterized by a defect in valve structure or function.
_
C45525
Disorder of Heart Valve
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Valvular Heart Disorder
Dysfunction of one of the cardiac valves, with incomplete valve closure resulting in valvular regurgitation.
_
C50796
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Valvular Insufficiency
Useful in assessing neonatal neuromuscular development, this is obtained when the infant is placed in a supine position and the infant's feet are grasped pulled toward the ipsilateral ears. The examiner measures the angle made by the arc from the table to the infant's heels; increased angle for age suggests hypotonia, and decreased angle for age suggests hypertonia.
_
C89513
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Heel to Ear Measurement
A life-threatening complication of pregnancy usually occurring in women with preeclampsia or eclampsia. It is characterized by hemolytic anemia, elevated liver enzymes, and low platelet count. Signs and symptoms include headaches, nausea, vomiting, blurred vision, and upper abdominal pain. It may lead to diffuse intravascular coagulation and acute renal failure.
_
C84750
Hemolysis-Elevated_Liver_Enzymes-Low_Platelet_Count_Syndrome
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
HELLP Syndrome
A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.
_
C3084
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemangioendothelioma
A benign localized vascular neoplasm usually occurring in infancy and childhood. It is characterized by the formation of capillary-sized or cavernous vascular channels. The majority of cases are congenital.
_
C3085
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemangioma
A hemangioma arising from organs within the abdominal cavity.
_
C3635
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intra-Abdominal Hemangioma
A hemangioma arising from the skin.
_
C4905
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemangioma of the Skin
Vomiting blood.
_
C37964
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hematemesis
The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage.
_
C98936
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hematochezia
A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, and myelodysplastic syndromes.
_
C27134
Malignant Tumor of Lymphoid, Hemopoietic and/or Related Tissue; Neoplasm of Hematopoietic Cell Type
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hematopoietic and Lymphoid Cell Neoplasm
A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation.
C26323
NICHD Pediatric Terminology
Hematologic and Lymphocytic Disorder
A laboratory test that has blood as its specimen.
_
C49286
Hematology Test
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hematology Test
Myeloproliferation involves both medullary and extramedullary proliferation of bone marrow constituents, such as erythroblasts, granulocytes, megakaryocytes, and fibroblasts.
_
C19955
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myeloproliferation
Any deviation from the normal structure or function of the blood or lymphatic system that is manifested by a characteristic set of symptoms and signs.
_
C35814
Disorder of Hematopoietic System; Hemostatic Disorder
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hematopoietic and Lymphoid System Disorder
Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system.
_
C36289
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hematopoietic System Finding
A congenital malformation characterized by the partial or total absence of the distal half of a limb.
_
C34674
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemimelia
An inherited metabolic disorder characterized by iron accumulation in the tissues.
_
C84481
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemochromatosis
The determination of the amount of hemoglobin A present in a sample.
_
C92258
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemoglobin A Measurement
The determination of the ratio of Hemoglobin A compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage.
_
C81276
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Hemoglobin A to Total Hemoglobin Ratio Measurement
The determination of the amount of hemoglobin A2 present in a sample.
_
C92259
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemoglobin A2 Measurement
The determination of the ratio of Hemoglobin A2 compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage.
_
C81277
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Hemoglobin A2 to Total Hemoglobin Ratio Measurement
A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. Causes include Rh incompatibility, congenital heart defects, and chromosomal abnormalities.
_
C84767
Hydrops Fetalis
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hydrops Fetalis
A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. This disorder is caused by a specific mutation in the beta-globin HBB gene, whereby a lysine is substituted for a glutamic acid at the sixth amino acid in the protein.
_
C34675
Sickle_Cell-Hemoglobin_C_Disease; Hemoglobin C Disease
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Hemoglobin C Disease
The determination of the ratio of Hemoglobin C compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage.
_
C81278
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Hemoglobin C to Total Hemoglobin Ratio Measurement
A quantitative measurement of the amount of hemoglobin present in a sample.
_
C64848
Hemoglobin_Variant_Test
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Hemoglobin Measurement
The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage.
_
C81279
Hemoglobin_S_Measurement
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Hemoglobin S to Total Hemoglobin Ratio Measurement
An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.
_
C3092
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemoglobinopathy
Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.
_
C34376
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemolytic Anemia
An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.
_
C99037
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pyruvate Kinase Deficiency
A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.
_
C101304
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemolytic Disease of the Fetus or Newborn
A disorder caused when there is a Rh-factor blood-type incompatibility between the mother and fetus, and the mother's immune system forms antibodies that attack the red blood cells of her unborn child. This disorder can only occur if the mother is Rh-negative and the fetus is Rh-positive.
_
C87115
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Hemolytic Disease of the Newborn
A deficiency or abnormality of a blood coagulation factor characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage, Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (factor VIII deficiency) hemophilia B or Christmas disease (factor IX deficiency), and hemophilia C (factor XI deficiency). In individuals without hereditary hemophilia A, factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in a condition known as 'acquired hemophilia.' Approximately 10 % of patients with acquired hemophilia have an underlying malignancy.
_
C3093
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemophilia
The flow of blood from a ruptured blood vessel.
_
C26791
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemorrhage
A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications.
_
C99111
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heparin Induced Thrombocytopenia
Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.
_
C3096
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Hepatitis A Infection
An inactivated virus vaccine that provides active immunization against hepatitis A virus (HAV). Immunization with hepatitis A vaccine induces the formation of anti-HAV antibodies which provide protection against hepatitis A infection.
_
C29090
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Hepatitis A Vaccine
A viral infection caused by the hepatitis B virus.
_
C3097
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Hepatitis B Infection
A test performed to determine the presence or absence of hepatitis B surface antigen.
_
C92806
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hepatitis B Screening
A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well.
_
C3728
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hepatoblastoma
An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding.
_
C98942
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Coagulation Factor Deficiency
An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.
_
C98937
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Factor I Deficiency
A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding.
_
C26799
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Factor II Deficiency
An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.
_
C26721
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemophilia B
A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding.
_
C98938
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Factor V Deficiency
A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding.
_
C98939
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Factor VII Deficiency
A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding.
_
C98940
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Factor X Deficiency
A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding.
_
C84705
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Factor XI Deficiency
A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding.
_
C26770
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Factor XII Deficiency
A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding.
_
C98941
NICHD Pediatric Terminology
Neonatal_Research_Network_Terminology
Hereditary Factor XIII Deficiency
An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
_
C98944
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Orotic Aciduria
An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.
_
C98943
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hereditary Pyropoikilocytosis
The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.
C34685
NICHD Pediatric Terminology
Hernia
The protrusion of abdominal contents through a congenital or acquired defect in the abdominal wall.
_
C98700
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Abdominal Hernia
Any inflammatory skin disease caused by a herpesvirus and characterized by the formation of small vesicles in clusters.
_
C50583
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Herpes
The abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition.
_
C87083
Heterotaxia_Syndrome
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Heterotaxia
A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this is in conjunction the absence of a spleen.
_
C101326
Heterotaxy, Asplenia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heterotaxy Syndrome with Asplenia
A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this is in conjunction with many small accessory spleens instead of one.
_
C101325
Heterotaxy, Polysplenia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Heterotaxy Syndrome with Polysplenia
Herniation of the upper part of the stomach through the diaphragm.
_
C98945
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hiatal Hernia
A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.
_
C98946
NICHD Pediatric Terminology
Neonatal Research Network Terminology
High Molecular Weight Kininogen Deficiency
A symptom in infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes, including birth trauma, craniosynostosis, Arnold-Chiari deformity, meningitis, and cri-du-chat syndrome (deletion of the short arm of chromosome 5).
_
C87169
NICHD Pediatric Terminology
Neonatal Research Network Terminology
High Pitched Cry
A fetal/maternal condition that is risky and portends complications for the mother and/or fetus, when compared to a normal pregnancy.
_
C92807
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
High Risk Pregnancy
Reported upper limit of the test reference range.
_
C70933
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
High Test Reference Range
A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon.
_
C34700
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aganglionic Megacolon
An electrocardiographic finding of a congenital tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and His bundle.
_
C98848
Congenital His Bundle Tachycardia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bundle of His Tachycardia
A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)
_
C3107
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Langerhans Cell Histiocytosis
Testing of a pregnant mother for antibodies to the human immunodeficiency virus (HIV) in early pregnancy. Results permit management to reduce the chances of maternal transmission of HIV to the fetus.
_
C92859
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Prenatal HIV Screening
A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.
_
C74988
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Holoprosencephaly
An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
_
C84765
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Homocystinuria
The birth control method that utilizes external source of sex hormones to prevent pregnancy by interfering with the ovulation, fertilization or implantation of the fertilized egg in the uterus.
_
C92808
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hormonal Contraception
An abnormal finding indicating that the level of a particular hormone is not within the expected normal values.
_
C92809
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hormone Imbalance
The determination of the amount of hormone present in a sample.
_
C74742
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hormone Measurement
A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure.
_
C98947
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Horseshoe Kidney
A laboratory test to detect the amount of human chorionic gonadotropin in a biospecimen.
_
C75387
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Human Chorionic Gonadotropin Measurement
A strain of papillomavirus that can infect the skin and mucous membranes of humans.
_
C14226
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Human Papillomavirus
A virus comprised of a protein coat (capsid) surrounding a circular, double-stranded DNA organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-16 (HPV16) has been directly linked to cervical cancer and is significantly associated with invasiveness. Progression from low- to high-grade neoplasia is often associated with the integration of the HPV16 genome into the host chromosome.
_
C14338
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Human Papillomavirus-16
A virus comprised of a protein coat (capsid) surrounding a circular, double-stranded DNA organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-18 (HPV18) has been directly linked to cervical cancer and plays a role in the pathogenesis of the disease. The virus integrates its DNA at specific chromosomal locations, such as 8q24 and 12q15. The use of molecular markers for HPV18 infection may allow the identification of patients with early stage cervical cancer and those at high risk for disease recurrence.
_
C14377
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Human Papillomavirus-18
A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.
_
C98949
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hydranencephaly
A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.
_
C3111
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hydrocephalus
A laboratory test result indicating increased levels of ammonia in the blood.
_
C98950
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hyperammonemia
Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice.
_
C27088
Physiological Hyperbilirubinemia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Elevated Bilirubin
A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.
_
C84479
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Excessive Blood Clotting
Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.
_
C87084
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hyperemesis Gravidarum
An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.
_
C103184
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hyperextension of Knee Deformity
Higher than normal levels of potassium in the circulating blood; associated with kidney failure or sometimes with the use of diuretic drugs.
_
C37968
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hyperkalemia
Higher than normal levels of magnesium in the circulating blood.
_
C37969
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypermagnesemia
Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.
_
C101229
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypernatremic Dehydration
Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.
_
C48259
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hyperparathyroidism
Pathological increase in blood pressure; a repeatedly elevated blood pressure exceeding 140 over 90 mmHg.
C3117
NICHD Pediatric Terminology
Hypertension
A condition that manifests with abnormally high body temperature. In hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production, e.g. in heat stroke, malignant hyperthermia, endocrine hyperthermia, or neuroleptic malignant syndrome. The concept does not refer to hyperpyrexia, the state when the hypothalamic set-point is reset at a higher temperature and is physiologically regulated.
_
C50589
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Hyperthermia
Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.
_
C3123
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hyperthyroidism
A condition of increased muscle tone manifested by increased resistance of the muscle to passive stretching.
_
C87085
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Hypertonia
An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.
_
C98952
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypertrophic Pyloric Stenosis
An unique natural method of childbirth that is supported by a relaxing self-hypnosis method.
_
C92810
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hypnobirthing
Lower than normal levels of calcium in the circulating blood.
Hypocalcaemia is an electrolyte disturbance in which the serum calcium levels in the blood are low (less than 2.1 mmol/L).
C37973
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypocalcemia
Lower than normal levels of magnesium in the circulating blood.
Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood (less than 0.7 mmol/L)
C37975
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypomagnesemia
Lower than normal levels of sodium in the circulating blood.
Hyponatremia is an electrolyte disturbance in which the sodium concentration in the serum is lower than normal. Sodium homeostasis is vital to the normal physiologic function of cells. Hyponatremia is defined as a serum level of less than 135 mEq/L and is considered severe when the serum level is below 125 mEq/L.
C37976
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hyponatremia
An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions.
_
C78350
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypoparathyroidism
A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.
_
C26798
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypophosphatasia
A congenital abnormality characterized by the underdevelopment of the optic nerve.
_
C98999
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Optic Nerve Hypoplasia
A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy.
_
C98894
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypoplastic Left Heart Syndrome
A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities.
_
C40341
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypospadias
A condition in which the production of thyroid hormone by the thyroid gland is diminished. Signs and symptoms of hypothyroidism include low metabolic rate, tendency to weight gain, somnolence and sometimes myxedema. In the United States, the most common cause of hypothyroidism is Hashimoto's thyroiditis, an autoimmune disorder.
_
C26800
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypothyroidism
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
_
C87070
Poor_Muscle_Tone
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Hypotonia
A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma).
_
C3890
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypoxia
Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures.
_
C35549
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypoxic Encephalopathy
A surgical procedure to remove the uterine body (partial hysterectomy) or the uterine body and cervix (total hysterectomy). -- 2004
_
C15256
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hysterectomy
A surgical incision made on the uterus to access the uterine cavity.
_
C92811
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hysterotomy
A type of abortion where the product of conception is accessed through a surgical incision on the corpus uteri intended to terminate the pregnancy.
_
C92812
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Hysterotomy Abortion
The procedure of having an identity established.
_
C25737
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Identification
A pathologic fibrous band that impedes passage of intestinal contents through the ileum.
_
C101276
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ileal Band
The formation of tissue in the lumen of the ileum that results in partial obstruction.
_
C98953
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ileal Web
A sequence of letters, numbers, or other characters that specifically identifies a particular image.
_
C81289
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Image Identifier
A collection of data pertinent to a radiographic study.
_
C81256
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Imaging Information
A finding that indicates the presence of immature retinal vessels as a result of prematurity.
Retinal vessels in premature infants which do not complete their normal growth. For the purpose of defining the location, three concentric zones were defined. Since retinal vascular development proceeds from the optic nerve to the ora serrata, the zones are centered on the optic disc rather than the macula.
C99115
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Immature Retinal Vasculature
A finding that indicates the presence of immature retinal vessels in zone 1 of the retina.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone I is a circle, the radius of which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.
C99117
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Immature Retinal Vasculature in Zone 1
A finding that indicates the presence of immature retinal vessels in zone 2 of the retina.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone II extends centrifugally from the edge of zone I to the nasal ora serrata.
C99118
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Immature Retinal Vasculature in Zone 2
A finding that indicates the presence of immature retinal vessels in zone 3 of the retina.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". Zone III is the residual crescent of retina anterior to zone II.
C99119
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Immature Retinal Vasculature in Zone 3
Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa.
_
C84638
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ciliary Motility Defect
A disorder resulting from an abnormality in the immune system.
_
C3507
Disorder of Immune System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Immune System Disorder
Inoculating an individual with either killed or live agents to prevent contraction of a disease.
_
C15258
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Immunization
A disorder resulting from an abnormality in the immune system.
C3507
NICHD Pediatric Terminology
Immune System Disorder
The period of time prior to the beginning of childbirth labor; common signs and symptoms include nesting, anxiety, excitement, loss of mucous plug, increased urinary frequency and loose bowel movements.
_
C92813
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Impending Labor
A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.
_
C84784
Anal Atresia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Imperforate Anus
Bowel perforation in utero, caused by bowel obstruction. It results in meconium peritonitis.
In utero bowel perforation is a rupture of the bowel prior to birth, resulting in fetal stool (meconium) escaping into the surrounding space (peritoneum) leading to inflammation (peritonitis). It results in meconium peritonitis.
C99121
NICHD Pediatric Terminology
Neonatal Research Network Terminology
In Utero Bowel Perforation
Fertilization of an ovum outside of the body.
_
C16580
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
in vitro Fertilization
A vaccine consisting of inactivated poliovirus (IPV) types 1,2 and 3, with active immunizing activity against poliomyelitis. Upon intramuscular vaccination, inactivated poliovirus vaccine (IPV) activates the immune system to develop antibodies against polioviruses.
_
C91715
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Inactivated Poliovirus Vaccine
A preparation of killed microorganisms that is intended to prevent or treat an infectious disease by inducing active immunity to the causative microorganism.
_
C29694
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Inactivated Vaccine
A traditional unit of length equal to 1/12 of a foot or 2.54 centimeters.
_
C48500
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Inch
A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation.
_
C84787
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Incontinentia Pigmenti
A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease.
_
C99124
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Increased Bone Density
Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation.
_
C26906
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Urinary Frequency
Increased involuntary muscle tone caused by central nervous system disorders that affect the regions interfering with voluntary movement. It results in gait, movement, and speech disturbances. Representative examples of disorders causing spasticity include brain or spinal cord injury, and multiple sclerosis.
_
C79750
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spasticity
An event, entity or condition that typically characterizes a prescribed environment or situation and determines or aids in determining whether certain stated circumstances exist or criteria are satisfied.
_
C25180
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Indicator
A surgical or medical procedure that terminates a pregnancy by removing the fetus.
_
C92954
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Induced Abortion Procedure
The administration of pharmaceutical agents to promote the start of labor and childbirth process.
_
C92814
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Induction of Labor
A young child between one month and two years of age.
_
C27956
NICHD Pediatric Terminology
Infant
A nutritional substitute for breast milk, usually with a foundation of cow or soy milk.
_
C81249
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Infant Formula
Primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures.
_
C81181
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Infant Reflex
The period of life between 28 days and 13 months of age.
_
C89889
NICHD Pediatric Terminology
Infancy
A localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion.
_
C25738
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Infarction
Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence.
_
C99063
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spinal Cord Infarction
An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.
_
C35025
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Skin Infection
A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact.
_
C26726
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Infectious Disorder
Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.
_
C79598
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Infectious Meningitis
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
_
C3836
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Infertility
An infectious or non infectious disorder characterized by signs and symptoms derived from focal or extensive tissue infiltration by acute (e.g., polymorphonuclear) or chronic (e.g., lymphocytic-plasmacytic) inflammatory cells. Representative examples of infectious disorders include viral infections, bacterial infections, and parasitic infections. Representative examples of non-infectious inflammatory disorders include inflammatory bowel disease and inflammatory polyps.
_
C93210
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Inflammatory Disorder
An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.
_
C53482
Flu
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Influenza
The administration of live or attenuated influenza virus for the prophylaxis of influenza.
_
C96408
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Influenza Vaccination
The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.
_
C34690
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Inguinal Hernia
Damage to the eye.
_
C34602
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ocular Injury
A traumatic injury to the head.
_
C34660
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Head Injury
Damage to the skin.
_
C99062
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Skin Injury
Damage inflicted on the bones and/or soft tissues as the direct or indirect result of an external force, with or without disruption of structural continuity.
_
C98904
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Connective and Soft Tissue Injury
When examining the infant's palm for abnormalities, the examiner may note a single transverse palmar crease, which is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.
_
C89514
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Palmar Crease Examination
Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.
A human life stage that begins at birth and continues until twelve complete months of age.
C3371
Skin_Disorder; Disorder of Skin
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Skin Disorder
Symptoms, physical examination results, and/or laboratory test results related to the integumentary system.
_
C36281
Skin Finding
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Integumentary System Finding
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth or disease and are not restricted to any particular age group.
_
C97250
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Intellectual Disability
A powerful, temporary tensing of the uterine muscles that is stronger than previously felt movements.
_
C92815
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Intense Uterine Contraction
The marked inward movement of the muscles between the ribs during inhalation; they indicate that there is reduced pressure in the chest cavity and can be a sign of breathing difficulties.
_
C87087
Intercostal_Recession
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Intercostal Retractions
An infrequently repeated decrease in the fetal heart rate that occurs in conjunction with a uterine contraction.
_
C92816
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intermittent Fetal Heart Rate Deceleration
A finding during labor, in which the occiput rotates anteriorly and the head of the fetus assumes an oblique orientation while the fetus descends through the maternal pelvis.
_
C92817
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Internal Fetal Rotation
The inner portion of the nostrils of the nose.
_
C32856
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Internal Nare
A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus.
_
C98958
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Interrupted Aortic Arch
Pathologic accumulation of air in the interstitium of the lungs. It is caused by the rupture of alveoli and terminal bronchioles. It is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.
_
C34571
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Interstitial Emphysema
Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).
_
C26869
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Fibrosis
An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects.
_
C25218
Procedure
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intervention or Procedure
A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.
_
C98961
Congenital Malrotation of Intestine
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intestinal Malrotation
Blockage of the normal flow of the intestinal contents within the bowel.
_
C9175
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bowel Obstruction
Twisting of a loop of bowel that results in intestinal obstruction.
_
C98963
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intestinal Volvulus
A device usually made of plastic or metal, inserted into the uterus to prevent conception. IUCD can be a coil, loop, triangle, or T in shape; its material can be impregnated with a pharmaceutical agent. The primary action of all IUCDs is the induction of a foreign-body reaction within the endometrium. This sterile inflammatory process is toxic to gametes, primarily spermatozoa, and effectively prevents viable sperm from passing into the fallopian tubes. The copper-bearing device has an independent toxic effect on spermatozoa. The progestin-releasing devices produce changes in endometrial architecture and function that reduce the potential for implantation of a fertilized egg. The progestin effect on the cervical mucus also reduces the penetrability of sperm.
Intra Uterine Contraceptive Device is a form of birth control that involves an object placed in the uterus to prevent fertilization of the egg by sperm.IUCD can be a coil, loop, triangle, or T in shape; its material can be impregnated with a pharmaceutical agent.
C42771
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Intrauterine Device
A congenital or acquired aneurysm within the cranium.
_
C34458
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intracranial Aneurysm
Bleeding within the cranium.
_
C50438
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intracranial Hemorrhage
Intramuscular injection is a route of drug administration via injection into muscle tissue. Aqueous or oleaginous solutions and emulsions or suspensions may be administered. Absorption rates, delay in availability of the drug to the systemic circulation, and duration of effect are perfusion-limited, depend on molecular size of the agent, volume, and osmolarity of the drug solution, fat content of the injection site, and patient physical activity.
_
C28161
NICHD Pediatric Terminology
Intramuscular Route of Administration
The period of time during labor and delivery.
_
C92818
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Intrapartum
The monitoring of both maternal uterine contractions and fetal heart rate during the process of labor and delivery.
_
C92922
Electronic fetal monitoring; continuous cardiotocography (CTG); intrapartum CTG
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cardiotocography
The process that occurs during labor and delivery.
_
C92819
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Intrapartum Process
The retrieval of blood sample from the umbilical cord while the fetus is in utero.
_
C92820
Fetal Blood Sampling; Percutaneous Umbilical Blood Sampling (PUBS); Umbilical Vein Sampling
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Intrauterine Cordocentesis
Inhibition of fetal growth resulting in the inability of the fetus to achieve its potential size.
_
C80083
Fetal Growth Restriction; Fetal Growth Retardation; IUGR; Intrauterine Growth Restriction
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Growth Retardation
Administration of a drug within or into a vein or veins. Introduction of the drug directly into venous circulation results in 100% bioavailability due to an absence of the absorption phase, provides a precise and continuous mode of drug therapy, especially for drugs with a narrow therapeutic index.
_
C38276
NICHD Pediatric Terminology
Intravenous Route of Administration
Bleeding into the brain's ventricles.
_
C50896
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Intraventricular Brain Hemorrhage
Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence.
A substance-abuse withdrawal syndrome in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence. Signs and symptoms are characteristic of withdrawal syndromes and may affect fetal growth.
C103183
NICHD Pediatric Terminology
Neonatal Research Network Terminology
In utero Drug Withdrawal
A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations.
_
C87089
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Irregular Respiration
Loss of vascularization and tissue death caused by the disruption in the arterial access. Common causes include trauma due to accidents, insect or reptile bites, severe cold exposure or pathological conditions such as infarctions or blood dyscrasias.
_
C103225
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ischemic Necrosis
The most posterior and ventral bone making up the pelvis.
_
C32884
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Ischium
A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.
_
C4375
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Nesidioblastosis
A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.
_
C98964
Procedure (NRNT)
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Isovaleric Acidemia
Yellow pigmentation of the skin, mucous membranes, and the eyes due to hyperbilirubinemia. Causes include liver disease, biliary tract obstruction, and hemolysis.
_
C3143
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Jaundice
A pathologic fibrous band that impedes passage of intestinal contents through the jejunum.
_
C101277
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Jejunal Band
The formation of tissue in the lumen of the jejunum that results in partial obstruction.
_
C98966
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Jejunal Web
The appearance of the chromosomal makeup of a somatic cell in an individual or species, including the number and arrangement and size and structure of the chromosomes.
_
C25215
Karyotype_Morphology
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Karyotype
Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.
_
C101270
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Kernicterus due to Isoimmunization
A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.
_
C84799
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Kernicterus
A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma) and malignant processes (e.g., renal cell carcinoma and renal lymphoma).
_
C3149
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Disorder
A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
_
C34752
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Klinefelter Syndrome
A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations.
_
C98967
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Klippel-Feil Syndrome
A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg.
_
C84801
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Klippel-Trenaunay-Weber Syndrome
A joint connecting the lower part of the femur with the upper part of the tibia. The lower part of the femur and the upper part of the tibia are attached to each other by ligaments. Other structures of the knee joint include the upper part of the fibula, located below and parallel to the tibia, and the patella which moves as the knee bends.
_
C32898
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Knee Joint
Usually found in girls between 6 months and 6 years of age, this condition occurs wherein the labia grow together instead of as 2 separate folds, thereby blocking the opening of the vagina. It is caused by conditions such as repeated diaper rash, urine and stool infections, and sexual abuse. The condition often spontaneously corrects or responds to the application of estrogen cream.
_
C87090
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Labial Fusion
The processes an individual engages in when she attempts to gives birth.
_
C92743
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Birthing Labor
The process by which a mammal gives birth.
_
C92934
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Parturition
The discomfort that is experienced by the pregnant mother during the childbirth process as she attempts to give birth.
_
C92821
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Labor Pain
Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting.
_
C25294
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Laboratory Procedure
The outcome of a laboratory test.
_
C36292
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Laboratory Test Result
A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.
_
C98968
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lacrimal Mucocele
A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.
_
C26809
Disorder of Lacrimal System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lacrimal System Disorder
Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.
_
C98969
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lactic Acidosis
A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.
_
C97155
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Language Disorder
Fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation.
_
C34197
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lanugo
Creation of a surgical opening into the abdominal cavity.
_
C15266
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Laparotomy
An abnormal communication between the large intestine and another organ or cavity.
_
C78239
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Colonic Fistula
A fetus or infant who is larger than expected for the age or gender, or who has a birthweight greater than the 90th percentile.
_
C87092
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Large for Gestational Age
Narrowing of the laryngeal airway.
Laryngeal stenosis is a congenital or acquired narrowing of the upper airway that results in difficulty breathing.
C79608
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Laryngeal Stenosis
Tissue that develops between the vocal cords.
_
C98970
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Laryngeal Web
A usually congenital abnormality characterized by softening of the laryngeal cartilage. It presents in infancy with stridor.
_
C98971
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Laryngomalacia
A measuring tape frequently used to measure head circumference in newborns.
A measuring tape frequently used to measure head circumference in newborns. It can measure any circumference to the nearest millimeter and is manufactured from paper-thin, non-stretch, non-shrink plastic.
C81310
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Lasso-O Measuring Tape
The first day of the female's last menstrual cycle.
_
C81257
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Last Menstrual Period
The most recent screening.
_
C81258
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Last Screening
A transitional time in an individual's life between adolescence and early adulthood. This phase includes the final stages of pubertal growth and development as well as the attainment of significant psycho-social milestones.
A human life stage that begins at nineteen years of age and continues until twenty-one complete years of age. This phase includes the final stages of pubertal growth and development as well as the attainment of significant psycho-social milestones.
C89344
NICHD Pediatric Terminology
Late Adolescence
A decrease in the fetal heart rate that occurs gradually after the peak in uterine contraction.
_
C92822
Late_Fetal_Heart_Deceleration
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Late Fetal Heart Rate Deceleration
An abnormal bleeding through the vagina that occurs during the last trimester of pregnancy.
_
C92823
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Late Pregnancy Bleeding
The period during the first stage of labor and childbirth that precedes the active phase of labor.
_
C92941
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Latent Phase of Labor
The discharge of amniotic fluid vaginally due to a tear or rupture in the amniotic membrane.
_
C92824
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Leakage of Amniotic Fluid
A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.
_
C89334
NICHD Pediatric Terminology
Learning Disorder
The organ of hearing located on the left side of the head.
_
C81259
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Left Ear
A fetal position during delivery in which the head of the fetus is in the birth canal facing the area between the right hip and the spine of the mother.
_
C92825
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Left Occiput Anterior Presentation
Obstruction of the left ventricular outflow tract. It is caused by aortic valve, supravalvar, or subvalvar defects.
_
C99126
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Left Ventricular Outflow Tract Obstruction
One of the two lower extremities in humans used for locomotion and support.
_
C32974
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Leg
An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.
_
C84814
Pyruvate Dehydrogenase Complex Deficiency
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Leigh Disease
The linear extent in space from one end of something to the other end, or the extent of something from beginning to end.
_
C25334
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Length
A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.
_
C3161
Leukemia, Disease
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Leukemia
A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.
_
C3185
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Leukemoid Reaction
Increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or Down syndrome.
_
C101319
Transient Leukemoid Reaction of Newborn
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Transient Leukemoid Reaction of the Newborn
A laboratory test result indicating an increased number of white blood cells in the peripheral blood.
_
C35524
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Leukocytosis
An acyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery.
_
C98902
L-Transposition of the Great Vessels
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Levo-Transposition of the Great Arteries
A designation assigned to a particular period during a life cycle, generally defined by chronological parameters.
_
C89335
NICHD Pediatric Terminology
Life Stage
Fleshy fold which surrounds the opening of the mouth.
_
C12220
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Lip
A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.
_
C3192
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lipoma
A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation.
_
C84640
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Classical Lissencephaly
Congenital abnormalities, mainly cardiovascular malformations, which develop in a fetus when the mother uses lithium medication during pregnancy.
_
C98974
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lithium Induced Birth Defect
A vaccine that contains live attenuated influenza virus (LAIV) particles. This vaccine is administered intranasally for influenza prophylaxis. Not all populations are good candidates for LAIV; the very young, elderly, asthmatics and those with health impaired may be better treated with the trivalent inactivated vaccine that is administered intramuscularly.
_
C96402
Nasal Spray Flu Vaccine
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Live Attenuated Influenza Vaccine
A finding that indicates abnormal liver function.
_
C50634
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Liver Dysfunction
The temporary suppression of sensation at a specific region of the body by pharmacological intervention. This type of anesthesia does not induce unconsciousness in the patient.
_
C81260
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Local Anesthesia Procedure
Vaginal discharge occurring during the post-partum period. It consists of a mixture of blood, mucus, and placental remnants.
_
C78742
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Lochia
A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.
_
C84537
LCAD; Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acyl-CoA Dehydrogenase, Long-Chain Deficiency
A ventricular arrhythmia characterized by syncopal episodes and a long QT interval, sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death.
_
C34786
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Long QT Syndrome
A type of fetal presentation where the fetal spine is aligned along the longitudinal axis of the uterus and descends into the birth canal during delivery.
_
C92826
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Longitudinal Fetal Presentation
Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula.
_
C98975
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Low Anorectal Malformation
Refers to a fetus or infant who is smaller than expected for the age or gender, or who has a birthweight less than the 10th percentile.
_
C34724
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Low Birth Weight
Any blood pressure that is below the normal expected for an individual in a given environment.
_
C3128
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypotension
Reported low limit of the test reference range.
_
C70934
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Low Test Reference Range
Reduced ability to perceive visual stimuli.
_
C97175
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Low Vision
An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction.
_
C84940
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Oculocerebrorenal Syndrome
A surgical incision line on the uterus that is transversely cut in relation to the lower uterine segment.
_
C92827
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Lower Uterine Segment Incision
A congenital abnormality in the lumbar region of the spine in which the meninges protrude through a defect in the spinal column.
_
C101211
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lumbar Meningocele
Herniation of spinal cord tissue and meninges through a defect in the lumbar region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.
_
C98976
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lumbar Myelocele
A congenital abnormality in the lumbar region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
_
C101203
Lumbar Meningomyelocele
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lumbar Myelomeningocele
A non-neoplastic or neoplastic condition affecting the lung. Representative examples of non-neoplastic conditions include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic conditions include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung).
_
C3198
Disorder of Lung
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lung Disorder
Abnormal permanent enlargement of the lung air spaces distal to terminal bronchiole not resulted from wall destruction, e.g. due to loss of opposite lung.
_
C50644
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Lung Overinflation
A syndrome associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses, marked by the presence of antibodies directed against phospholipids.
_
C61283
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Antiphospholipid Syndrome
An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.
_
C27153
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lupus Erythematosus
A benign neoplasm arising from the lymphatics. The tumor is composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.
_
C8965
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lymphangioma
A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease.
_
C61250
Disorder of Lysosomal Enzymes
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Lysosomal Storage Disease
An abnormally large head. Causes include hydrocephalus, enlarged brain, and cranial hyperostosis.
_
C35268
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Macrocephaly
A woman's surname before marriage.
_
C25381
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Maiden Name
A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.
_
C3214
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Malabsorption Syndrome
A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.
_
C34797
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Malaria
A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both.
_
C20197
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Male
A non-neoplastic or neoplastic disorder that affects the male genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, and undescended testis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma.
_
C27019
Disorder of Male Reproductive System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Male Reproductive System Disorder
A malignant mesenchymal tumor affecting soft tissues and bone. It is classified as adult or infantile. Infantile fibrosarcomas generally have a much more favorable prognosis than adult fibrosarcomas.
_
C3043
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fibrosarcoma
A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.
_
C9305
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Malignant Neoplasm
Primary or metastatic malignant neoplasm involving the kidney.
_
C7548
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Malignant Renal Neoplasm
An abnormal position assumed by the fetus in the birth canal during the childbirth process.
_
C92793
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Fetal Malpresentation
A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.
_
C61275
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mannosidosis
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.
_
C34806
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Maple Syrup Urine Disease
A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
_
C34807
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Marfan Syndrome
The elevation of body temperature in a pregnant mother above 38 degrees C or more than 101 degrees F, and may be indicative of an infection.
_
C92828
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Maternal Fever
A decrease in the systolic blood pressure in a pregnant mother for values that are less than 25% of her normal blood pressure levels or arbitrarily, one that is less than 100 mm Hg during pregnancy.
_
C92829
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Maternal Hypotension
The period of time during a female's reproductive years that she functions as a mother.
_
C90337
NICHD Pediatric Terminology
Maternal Life Stage
Obesity in a female who has a child.
_
C97176
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Maternal Obesity
The act, or process, of natural progression in physical and psychological maturation from a previous, lower, or embryonic stage to a later, more complex, or adult stage.
_
C17770
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Maturation
A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).
_
C96406
Rubeola
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Rubeola Infection
A trivalent vaccine containing live attenuated viruses that can cause measles, mumps and rubella. It is an injection administered subcutaneously in two separate doses.
_
C96403
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Measles/Mumps/Rubella Vaccine
Any device used to determine the dimension of an object.
_
C81182
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Measurement Device
The measurement of the amount of amino acids in a biologic specimen.
_
C81183
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Amino Acid Measurement
The determination of the amount of hemoglobin C present in a sample.
_
C92261
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hemoglobin C Measurement
A pliable length of fabric, plastic, paper or some composite that is has incremental lengths imprinted on the surface.
A pliable length of fabric, plastic, paper or some composite marked off in a linear scale, as of inches or centimeters, for taking measurements.
C81261
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Measuring Tape
A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.
_
C12264
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meckel Diverticulum
A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations.
_
C98978
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meckel-Gruber Syndrome
The newborn's first intestinal discharge. It is a dark-green, thick substance composed of mucus, intestinal secretions, hair, and intestinal mucosa cells.
_
C78743
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meconium
A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.
_
C87093
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meconium Aspiration Syndrome
Inflammation of the peritoneum due to an infection caused by meconium contamination.
_
C102977
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meconium Peritonitis
A transient colonic dysfunction in the newborn characterized by the delayed passage of meconium and associated intestinal dilatation.
_
C98980
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meconium Plug Syndrome
The presence of air in the mediastinum. It is caused by injury, most often esophageal or intestinal perforation.
Mediastinal emphysema is a condition in which air is present in the mediastinum. It can result from physical trauma or other situations that lead to air escaping from the lungs, airways or bowel into the chest cavity.
C98981
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pneumomediastinum
An identifying number within an institution that is used to reference a subject's medical information.
_
C81262
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Medical Record Number
Pharmacologic agents administered to a neonate at birth.
_
C90603
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Medication Administered at Birth
A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy.
_
C84538
MCAD; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acyl-CoA Dehydrogenase, Medium-Chain Deficiency
A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones.
_
C34751
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Medullary Sponge Kidney
A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity.
_
C3222
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Medulloblastoma
A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract.
_
C98982
NICHD Pediatric Terminology
Neonatal Research Network Terminology
MMIH Syndrome
An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities.
_
C98983
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Melnick-Fraser Syndrome
A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.
_
C26828
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meningitis
A congenital abnormality of the spine in which the meninges protrude through a defect in the spinal column.
_
C101209
Spinal Meningocele
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Meningocele
A conjugate vaccine of meningococcal polysaccharide used for active immunization against invasive meningococcal disease caused by Neisseria meningiditis serogroups A, C, Y, and W-135.
_
C96391
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Meningococcal Conjugate Vaccine MCV4
A polysaccharide vaccine used to prevent contraction of meningococcal meningitis.
_
C96519
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Meningococcal Polysaccharide Vaccine MPSV4
An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.
_
C75486
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Menkes Disease
The permanent cessation of menses, usually defined by 6 to 12 months of amenorrhea in a woman over 45 years of age.
_
C3231
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Menopause
A sequential arrangement of information pertaining to the evolution of an individual's cognitive development.
_
C81263
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mental Development Index
A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.
_
C84392
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Mental Retardation
A range of values that characterizes an individual's mental development.
_
C81264
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mental Scale
A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.
_
C97045
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Metabolic Bone Disorder
A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process.
_
C3235
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Metabolic Disorder
A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.
_
C75471
NICHD Pediatric Terminology
Neonatal Research Network Terminology
COL1A1 Associated Connective Tissue Disorder
A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.
_
C98985
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Metabolic Myopathy
Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin.
_
C101043
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Methemoglobin Reductase Deficiency
An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma.
_
C98674
NICHD Pediatric Terminology
Neonatal Research Network Terminology
3-Methylcrotonyl-CoA Carboxylase Deficiency
A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
_
C98986
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Methylmalonic Acidemia
A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. It is the result of brain developmental delay.
_
C85874
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Microcephaly
A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development.
_
C98987
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Microcolon
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
_
C75464
Multicystic Kidney
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Polycystic Kidney Disease
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
_
C87094
Congenital_Micrognathism
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Micrognathism
A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation.
_
C98988
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Microgyria
Unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one millionth of international unit per one milliliter of system volume.
_
C67405
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Microinternational Unit per Milliliter
A congenital abnormality characterized by the presence of an abnormally small eye globe.
_
C98989
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Microphthalmos
The time period in a child's life that is generally defined as between 5 and 10 years of life.
A human life stage that begins at six years of age and continues until eleven complete years of age.
C89347
NICHD Pediatric Terminology
Middle Childhood
A surgical incision line that extends in a midline longitudinal axis of the uterus.
_
C92830
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Midline Longitudinal Uterine Incision
A diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy.
_
C98990
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neuronal Migration Disorder
An uterine contraction that is barely felt.
_
C92831
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Mild Uterine Contraction
A unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters.
_
C67015
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Milligram per Deciliter
A unit of concentration (molarity unit) equal to one thousandth of a mole (10E-3 mole) of solute per one liter of solution.
_
C64387
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Millimole per Liter
The absence of a menstrual period based on the expected start date of the menstrual cycle.
_
C92832
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Missed Menstrual Period
Myopathy caused by mitochondrial abnormalities.
_
C101328
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mitochondrial Myopathy
A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death.
_
C98991
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mitochondrial Trifunctional Protein Deficiency
The backward flow of blood from the left ventricle into the left atrium, owing to insufficiency of the mitral valve; it may be acute or chronic, usually due to mitral valve prolapse, rheumatic heart disease or a complication of cardiac dilatation.
_
C50852
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mitral Regurgitation
Narrowing of the left atrioventricular mitral orifice.
_
C50654
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mitral Stenosis
A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.
_
C97177
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Mixed Cerebral Palsy
A combination of conductive and sensorineural losses.
_
C97178
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Mixed Hearing Loss
A specific manner, characteristic, pattern of application or the employment of, any therapeutic agent or method of treatment, especially involving the physical treatment of a condition.
_
C41147
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Modality
The relative number of moles of one substance to another in a chemical reaction.
_
C81268
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Molar Ratio
A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.
_
C98993
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Monosomy 13q Syndrome
A group of small sebaceous glands that secrete into the areolae of the mother's breast to lubricate the nipple during breastfeeding.
_
C92833
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Montgomery Tubercle
The fluctuations in the mental and emotional state of an individual during pregnancy.
_
C92937
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Mood Swing
The nausea and vomiting that accompanies early pregnancy.
_
C92834
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Morning Sickness
An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexion of the fingers and toes.
_
C81311
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Moro Reflex
A light microscopic finding that describes the cellular characteristics and architectural patterns of cell populations in a tissue sample.
_
C35867
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Morphologic Finding
The evolution of physical movement over an individual's lifespan.
_
C81269
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Motor Development
The presence of an alteration in the ability to move one's body or any body parts in accordance with one's intent.
_
C5039
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Motor Manifestations
A patchy appearance of the skin caused by underlying blood vessel changes.
_
C87095
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Mottling
During examination of the newborn infant, the examiner looks for symmetric movement of the lip corners. Movement of the lip corners is governed by the zygomatic major muscle.
_
C87096
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Movement of Lip Corners
A fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails.
_
C35576
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mucocutaneous Candidiasis
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
_
C61259
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mucopolysaccharidosis
A gelatinous type of connective tissue that is found in the umbilical cord.
_
C34213
Wharton's Jelly
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Mucous Connective Tissue
A mucus plug situated in the maternal cervical os during pregnancy that prevents entry of bacteria into the uterus.
_
C92752
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Cervical Mucus Plug
A deficiency of the Mullerian inhibiting substance, which is secreted by the Sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility.
_
C101215
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mullerian Inhibiting Substance Deficiency
A single birthing event that produces two or more offspring.
_
C81271
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Multiple Birth
A pregnancy involving twins or higher-order multiple fetuses (e.g., triplets, quadruplets).
_
C87097
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Multiple Gestation
A benign diffuse vascular neoplasm usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.
_
C27503
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Angiomatosis
A gestation with more than one fertilized egg implanted as a viable fetus in the uterus.
_
C92931
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Multiple Pregnancy
A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.
_
C29888
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Mumps
A component of the APGAR score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion.
_
C81312
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Muscle Tone Score
A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.
_
C84910
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Muscular Dystrophy
Symptoms, physical examination results, and/or laboratory test results related to the connective and soft tissue.
_
C36288
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Connective and Soft Tissue Finding
Any deviation from the normal structure or function of the musculoskeletal or connective tissue that is manifested by a characteristic set of symptoms and signs.
_
C27574
Disorder of Musculoskeletal System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Connective and Soft Tissue Disorder
A chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction.
_
C60989
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myasthenia Gravis
Herniation of spinal cord tissue and meninges through a defect in a region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.
_
C98874
Spinal Meningocele
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myelocele
A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
_
C101201
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myelomeningocele
Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.
_
C27996
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myocardial Infarction
A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease.
_
C34832
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Myoclonic Jerk
An epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes absence seizures. It appears during adolescence.
_
C84796
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Juvenile Myoclonic Epilepsy
A non-neoplastic disorder that affects the muscles. Representative examples include muscular dystrophy, metabolic myopathies, muscular atrophies, and dermatomyositis.
_
C101216
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myopathy
An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy.
_
C84913
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myotonic Disorder
An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.
_
C84914
Congenital Myotonic Dystrophy
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Myotonic Dystrophy
A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy.
_
C98994
NICHD Pediatric Terminology
Neonatal Research Network Terminology
NADH Dehydrogenase Deficiency
A unit of mass concentration defined as the concentration of one nanogram of a substance per unit volume of the mixture equal to one deciliter. The concept also refers to the unit of mass density (volumic mass) defined as the density of substance which mass equal to one nanogram occupies the volume of one deciliter.
_
C67326
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Nanogram per Deciliter
The blockage of the nasal passage due to mucosal edema. It is usually the result of a viral infection or an allergic reaction.
_
C78500
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Nasal Congestion
Enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants.
_
C87099
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Nasal Flaring
Administration of a drug by the way of the nose. This often results in systemic action of the agent due to absorption through the nasal mucosa. The richly supplied vascular nature of the nasal mucosa coupled with its high drug permeation makes the nasal route of administration attractive for many drugs, including proteins and peptides.
_
C38284
NICHD Pediatric Terminology
Nasal Route of Administration
The process of giving birth vaginally without any surgical intervention.
_
C92932
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Natural Birth
The region that connects the head to the rest of the body.
_
C13063
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Neck
A serious, life-threatening disorder characterized by necrotic changes affecting portions of the small and large intestine. It is usually seen in neonates, particularly premature infants. Signs and symptoms include abdominal distention and tenderness, intestinal bleeding and ileus. It may lead to cardiovascular collapse and shock.
_
C84915
Necrotizing_Enterocolitis_In_Fetus_Or_Newborn
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Necrotizing Enterocolitis
A finding which indicates an individual is not pregnant.
_
C35450
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Negative Pregnancy Test
A species of aerobic, Gram-negative, diplococci shaped bacteria assigned to the phylum Proteobacteria. This species is catalase and oxidase positive, non-hemolytic, non-pigmented, does not reduce nitrate or nitrite, does not synthesize polysaccharides, grows on blood, chocolate, or Muller-Hinton agar, and produces acid from glucose and maltose but not fructose, sucrose, mannose, or lactose. N. meningitidis, known commonly as meningococcus, is the causative agent of cerebrospinal meningitis, but is also associated with other human infections, but can be commensal in the oropharynx and nasopharynx of carriers.
_
C86605
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Neisseria meningitidis
A constellation of signs and symptoms observable in a neonate that are consistent with maternal narcotic abuse or withdrawal while pregnant.
_
C87101
NAS
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Abstinence Syndrome
The measurement of the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse; the score can be used to determine subsequent treatment of the infant.
_
C89515
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Abstinence Syndrome Assessment
Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn.
_
C99253
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Acrocyanosis
A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.
_
C99251
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Adrenoleukodystrophy
Inhalation of fluid from the amniotic sac into the lungs by the neonate.
_
C101028
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Aspiration of Amniotic Fluid
Transient or permanent diabetes mellitus that affects neonates. It is caused by the inability of the pancreas to secrete sufficient insulin in response to elevated levels of glucose in the blood. The transient diabetes mellitus lasts for weeks or months and may return in adolescence or in adulthood. The permanent diabetes mellitus does not disappear and is caused by mutations in the KCNJ11, GCK, and IPF1 genes.
_
C99248
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Diabetes Mellitus
A non-neoplastic or neoplastic disorder which occurrs during the neonatal period.
_
C98996
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Disorder
Hepatitis developing during the neonatal period.
_
C84446
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Hepatitis
Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities.
_
C99235
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Hyperbilirubinemia
Hypoglycemia that occurs during the neonatal period. Causes include inadequate hepatic glycogen stores, inadequate lipid stores, or inadequate amino acid muscle stores. Signs and symptoms include tachypnea, respiratory distress, tachycardia or bradycardia, lethargy, and seizures.
Hypoglycemia is a condition that occurs during the neonatal period, when there is abnormally diminished content of glucose in the blood (below 70 mg/dL ).
C99237
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Hypoglycemia
An infectious disorder that occurs during the neonatal period. Representative examples include streptococcal infection, E.coli infection, and bacterial meningitis.
_
C99231
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Infectious Disorder
Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma.
_
C99246
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Jaundice
Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes.
_
C98846
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Breast Milk Jaundice
A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.
_
C99236
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Lupus Erythematosus
A withdrawal syndrome that presents during the neonatal period and is caused by opioids abuse by the mother during pregnancy or abrupt discontinuation of opioid analgesics that are administered to the baby. It manifests with central nervous system abnormalities, vasomotor abnormalities, and respiratory abnormalities.
_
C99255
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Opiate Withdrawal Syndrome
A condition of the newborn marked by dyspnea with cyanosis, most frequently occurring in premature infants, children of diabetic mothers and infants delivered by cesarean section, and sometimes with no predisposing cause.
_
C27560
Respiratory_Distress_Syndrome_in_the_Newborn
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Neonatal Respiratory Distress Syndrome
A respiratory system disorder that occurs during the neonatal period. A representative example is the respiratory distress syndrome.
_
C99232
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Respiratory System Disorder
Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays.
_
C99233
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Rickets
The period at birth when a newborn is born after the full gestational period.
A human life stage that begins at full term birth and continues until twenty-seven complete days of age.
C89887
Term Neonatal Stage
NICHD Pediatric Terminology
Full Term Neonatal Stage
Thrombocytopenia that is a result of incompatibilities between the platelets of the mother and the fetus.
_
C101200
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neonatal Alloimmune Thrombocytopenia
A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
_
C3262
Neoplastic_Disease
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neoplasm
Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).
_
C35370
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Bone Marrow Neoplasm
A benign or malignant, primary or metastatic neoplasm affecting the heart.
_
C3081
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Cardiac Neoplasm
A benign or malignant, primary or metastatic neoplasm involving the central or peripheral nervous system.
_
C3268
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Nervous System Neoplasm
An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.
_
C40407
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Wilms Tumor
A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.
_
C34845
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Nephrotic Syndrome
A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.
_
C26835
Disorder of Nervous System; Neurologic_Disorder
NICHD Neurological Development Terminology
Neonatal Research Network Terminology
Nervous System Disorder
A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.
_
C84923
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neural Tube Defect
A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.
_
C3270
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neuroblastoma
A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.
_
C84348
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Phakomatosis
A childhood affliction that has a neurological basis and manifests as a developmental disability.
_
C89338
NICHD Pediatric Terminology
Neurodevelopmental Disorder
A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma.
_
C3809
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neuroendocrine Neoplasm
An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.
_
C6727
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neurofibromatosis
The assessment of the functionality of the brain, spinal column, and nerves.
_
C81313
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neurologic Examination
A term that refers to the clinical manifestations resulting from pathologic processes that affect the central and peripheral nervous system.
_
C3837
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neurological Signs and Symptoms
A specific type of neurologic examination for early detection of disease(s) and/or disorder(s).
_
C89339
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neurological Screening
An examination of the following neonatal attributes: 1) posture; 2) the "square window" (how far the baby's hands can be flexed toward the wrist); 3) arm recoil; 4) "popliteal angle" (how far the baby's knees extend); 5) "scarf sign" (how far the baby's elbows can be moved across the chest); and 6) "heel to ear" (how far the baby's feet can be moved to the ears). It is a subscore of the Dubowitz/Ballard Examination for Gestational Age.
_
C89516
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neuromuscular Maturity Assessment
A disorder affecting the cranial nerves or the peripheral nervous system. It is manifested with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.
_
C4731
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Neuropathy
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.
_
C84748
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hartnup Disease
A position of the fetus during the labor and delivery process where the fetal chin is mildly flexed but with a forward facing head.
_
C92835
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Neutral Fetal Attitude
An infant during the first month after birth.
_
C16731
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Newborn
The assessment of behavior in neonates.
_
C81314
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Newborn Behavioral Examination
The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60.
_
C87105
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Newborn Blood Pressure
A general assessment of the overall health of a newborn.
_
C84749
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Newborn Examination
The number of heartbeats of the newborn per minute; the normal range is 100 - 180 heartbeats per minute.
_
C87103
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Newborn Heart Rate
A range of values used to quantify newborn motor development.
_
C81270
Motor_Assessment_Scale
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Newborn Motor Scale
The number of inhalations and exhalations of the newborn per minute; the normal range is 30 - 60 breaths per minute.
_
C87104
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Newborn Respiratory Rate
A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s).
_
C81178
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Newborn Screening
The non-affirmative response to a question.
_
C49487
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
No
An injury that is not the result of an accident or natural causes.
_
C101034
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intentional Trauma
An autosomal recessive inherited metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.
_
C84937
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Glycine Encephalopathy
A non-invasive test usually done during the third trimester to check for fetal well being. It is performed using an external fetal heart rate monitor to assess the fetal heart rate response to fetal movements.
_
C92836
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Obstetric Non-Stress Test
A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
_
C34854
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Noonan Syndrome
A pregnancy that is normal for both the mother and the fetus.
_
C92933
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Normal Pregnancy
Reported values within the typical or expected range.
_
C78727
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Normal Reference Range
A process of birthing whereby the fetus is born unaided by medical inducements or surgical intervention and without complication.
_
C94835
Normal Delivery
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Normal Spontaneous Vaginal Delivery
A subdermal implant incorporating silastic tubing containing levonorgestrel designed to administer a continuous dose of progestins for pregnancy contraception.
A contraceptive device incorporating silastic tubing containing levonorgestrel designed to administer a continuous dose of progestins for pregnancy contraception, that is surgically placed under the skin
C92891
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Subdermal Birth Control Implant
A structure of special sense serving as an organ of the sense of smell and as an entrance to the respiratory tract.
_
C12756
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Nose
An ultrasonic examination of the fetus to confirm gestational age by assessing and measuring for the clear space at the back of the fetal neck using external calipers.
_
C92837
nuchal fold scan
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Nuchal Translucency Screen
Information in the form of a numeral contained in a data field.
_
C81274
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Numeric Value
That which is consumed to fuel necessary life processes of an organism.
_
C28294
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Nutrition
Any condition related to a disturbance between proper intake and utilization of nourishment.
_
C26836
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Nutritional Disorder
A fetal position during delivery in which the spine of the fetus is not aligned with the mother's resulting in the descent into the birth canal in an oblique position.
_
C92838
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Oblique Fetal Presentation
Watching something and taking note of what happens.
_
C25598
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Observation
An outcome of observation represented as a text, qualitative, or quantitative parameter, code, image, graph, etc.
C70856
NICHD Pediatric Terminology
Observation Result
A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.
_
C88411
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Obsessive Compulsive Disorder
Any pregnancy or childbirth related procedure associated with a mother during her reproductive years.
C89340
NICHD Pediatric Terminology
Obstetric Procedure
A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis.
_
C99007
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pelviureteric Junction Obstruction
A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities.
_
C99142
NICHD Pediatric Terminology
Neonatal Research Network Terminology
OEIS Complex
A lower than normal volume of amniotic fluid observed by ultrasound during pregnancy.
_
C92839
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Oligohydramnios
A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.
_
C40435
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Potter Syndrome
The actual time that is one minute after the birth of a fetus. This period is most commonly referenced during the administration of the APGAR test.
_
C81227
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
One Minute After Birth
Partial or complete removal of one or both of the ovaries.
_
C15291
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Oophorectomy
The cavity located at the upper end of the alimentary canal, behind the teeth and gums that is bounded on the outside by the lips, above by the hard and soft palates and below by the tongue.
_
C12421
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Oral Cavity
An agent taken orally to prevent conception.
_
C389
Pill
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Oral Contraceptive
A vaccine that contains live attenuated polio virus. It is administered orally as polio prophylaxis in many areas of the world, but not in the U.S. since 2000.
_
C96401
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Oral Polio Vaccine
The introduction of a substance to the mouth or into the gastrointestinal tract by the way of the mouth, usually for systemic action. It is the most common, convenient, and usually the safest and least expensive route of drug administration, but it uses the most complicated pathway to the tissues and bioavailability varies. The disadvantages of method are hepatic first pass metabolism and enzymatic degradation of the drug within the gastrointestinal tract. This prohibits oral administration of certain classes of drugs especially peptides and proteins.
C38288
NICHD Pediatric Terminology
Oral Route of Administration
An acute bacterial infectious process that affects the tissues surrounding the eye, including the eyelids, the eyebrow, and the cheek tissues. It is usually caused by Haemophilus influenza, Staphylococcus aureus, Streptococcus pneumoniae, and beta-hemolytic streptococci. Signs and symptoms include swelling and pain of the eyelids, pain in the eye, painful eye movements, decreased vision, and fever. It is a serious condition that requires immediate medical attention.
_
C99000
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Orbital Cellulitis
An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.
_
C101334
Disorder of Organic Acid Metabolism
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Organic Acid Metabolism Disorder
An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.
_
C84957
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ornithine Carbamoyltransferase Deficiency Disease
A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally.
_
C84893
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Mobius Syndrome
When testing for congenital dislocation of the hip, this is the result obtained when the examiner gently abducts the hip while pushing upward on the greater trochanter. If the hip is dislocated, it will relocate with an audible clunk, which is a positive result for this test.
_
C89517
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Ortolani Maneuver
A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.
_
C26837
Congenital Anomaly of Skeletal Bone
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Osteogenesis Imperfecta
The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.
_
C99003
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Osteogenesis Imperfecta Type I
A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.
_
C99001
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Osteogenesis Imperfecta Type II
A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.
_
C99002
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Osteogenesis Imperfecta Type III
A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III.
_
C98576
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Osteogenesis Imperfecta Type IV
Decreased calcification or density of bone tissue.
_
C50910
Osteopenia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Osteopenia
Different than the one(s) previously specified or mentioned.
_
C17649
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Other
The traditional unit of mass. The avoirdupois ounce is equal to 1/16 pound, or 28.3495 grams, or 0.911 457 troy ounce.
_
C48519
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Ounce
A peripheral blood finding in which a large number of erythrocytes are shaped in a slightly oval-shaped form.
_
C36293
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ovalocytosis
A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods.
_
C3300
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ovarian Cyst
An ectopic pregnancy of unknown etiology that occurs in the ovary instead of the uterine corpus. It may result in severe intra-abdominal bleeding.
_
C92945
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Ovarian Pregnancy
Twisting of the ovary resulting in the cutoff of the blood supply to the ovary. It may develop in an enlarged or normal ovary and in the vast majority of cases is unilateral. Signs and symptoms include acute lower abdominal pain, nausea, vomiting, and fever.
_
C99084
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ovarian Torsion
The discharge of a secondary oocyte from a vesicular follicle of the ovary.
_
C66849
Release of Egg
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Ovulation
The determination of oxygen-hemoglobin saturation of blood either by withdrawing a sample and passing it through a classical photoelectric oximeter or by electrodes attached to some translucent part of the body like finger, earlobe, or skin fold. It includes non-invasive oxygen monitoring by pulse oximetry.
_
C60832
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Oxygen Saturation Measurement
Oxytocin (125 aa, ~13kDa) is encoded by the human OXT gene. This protein plays a role in smooth muscle contraction in both the mammary gland and uterus. Oxytocin also is involved in maternal-newborn bonding, cognition and many other psychological and physiological processes.
_
C2283
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Oxytocin
The sensation of discomfort, distress, or agony, resulting from the stimulation of specialized nerve endings.
_
C3303
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pain
A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin.
_
C75458
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pallister-Killian Syndrome
An unusual or extreme paleness, state of decreased skin coloration.
_
C50685
On_Examination_-_Color_Pale
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pallor
A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
_
C62591
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypopituitarism
A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.
_
C97194
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Panic Disorder with Agoraphobia
A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.
_
C97193
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Panic Disorder without Agoraphobia
A sample of secretions and superficial cells of the body of uterus, cervix, and ovaries; examined with a microscope to detect any abnormal cells.
_
C17348
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Papanicolaou Smear Procedure
Damage to the phrenic nerve that results in paralysis of the hemidiaphragm.
_
C99017
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Phrenic Nerve Palsy
Partial or complete loss of function of one or more muscles. It is usually caused by damage to the nervous system.
_
C3310
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Paralysis
A successful invasion of a host by an organism that uses the host for food and shelter.
_
C27864
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Parasitic Infection
Administration of a substance by some means other than through the gastrointestinal tract: usually through injection, infusion, or implantation. Predominantly, the drug action is systemic, but in some cases, it is confined to local area.
_
C38291
NICHD Pediatric Terminology
Parenteral Route of Administration
A congenital heart disorder in which one or two pulmonary veins are not connected to the left atrium and drain into the right atrium instead. It may lead to arrhythmias and pulmonary hypertension.
_
C99004
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Partial Anomalous Pulmonary Venous Return
One of two possible results of a pass/fail assessment; when the result satisfies a condition.
_
C81275
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Pass
A discharge of the mucus plug from the cervical os during cervical dilation in preparation for the labor and delivery of the baby.
_
C92840
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Passing of Mucus Plug
A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.
_
C84492
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Patent Ductus Arteriosus
A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus.
_
C99005
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Patent Urachus
A non-neoplastic or neoplastic disorder which occurs during childhood.
_
C89328
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Pediatric Disorder
A diagnostic or therapeutic course of action usually performed on patients under the age of 18.
_
C90341
NICHD Pediatric Terminology
Pediatric Intervention or Procedure
An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome.
_
C99008
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pena-Shokeir Syndrome
A rare syndrome characterized by the presence of omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis, and ventricular septal defect or left ventricle diverticulum.
_
C99011
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pentalogy of Cantrell
The presence of a hole or other type of opening in the esophageal wall through which the contents of the esophagus can pass into the mediastinum. The most common cause of esophageal perforation is injury during a medical procedure such as esophagoscopy or placement of a naso-gastric tube; and pathologic process such as neoplasm or gastric reflux with ulceration. Less common causes include injuries from penetrating or blunt trauma or injury to the esophagus during an operation on another organ, mechanical problem such as violent retching or vomiting; ingestion of a foreign body or caustic agents. The condition often results in infection of the mediastinum and mediastinitis.
_
C50693
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Esophageal Perforation
A rupture in the ileal wall due to traumatic or a pathologic processes.
_
C78355
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ileal Perforation
A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.
_
C39611
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intestinal Perforation
A small preauricular skin tag.
_
C98919
Ear Tag
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ear Tag
Any abnormality involving the pericardium.
_
C101327
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pericardial Anomaly
Fluid collection within the pericardial sac, usually due to inflammation.
_
C3319
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pericardial Effusion
Respiratory distress in the newborn due to inhalation of blood; this is an unusual event and is sometimes linked to the non passage of meconium before delivery or mothers with antepartum hemorrhage.
_
C101320
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Blood Aspiration Syndrome
Episodes of cyanosis during the perinatal period.
_
C103191
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Cyanotic Attack
The death of an infant before birth after 28 weeks of gestation or shortly after birth.
_
C92841
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Perinatal Death
A non-neoplastic or neoplastic disorder occurring during the period from about five months before birth to one month after birth.
_
C35095
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Disorder
Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother.
_
C99258
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Drug Withdrawal
Intracranial hemorrhage that occurs in the perinatal period.
_
C99261
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Intracranial Hemorrhage
Bleeding within the ventricles of the brain during the perinatal period.
_
C101324
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Intraventricular Hemorrhage
Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period.
_
C103228
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Jaundice due to Inspissated Bile Syndrome
A pathological increase in the effort and frequency or breathing movements during the perinatal period.
_
C103190
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Respiratory Distress
A subependymal hemorrhage that involves the cerebral hemispheres and ventricles and occurs in the perinatal period.
_
C103187
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Perinatal Subependymal Hemorrhage with Intraventricular and Intracerebral Extension
A non-neoplastic or neoplastic disorder that affects the peripheral nervous system.
_
C27580
Disorder of Peripheral Nervous System; Peripheral Nerve Disease
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Peripheral Nervous System Disorder
Necrosis and softening of the white matter around the ventricles in the brain. It is usually seen in preterm infants and caused by lack of blood flow and oxygenation in the periventricular brain parenchyma.
_
C99013
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Periventricular Leukomalacia
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.
_
C85005
Disorder of Peroxisomal Function
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Peroxisomal Disorder
A congenital abnormality in which the rectum, vagina, and urethra fuse and form a common channel.
_
C99014
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Persistent Cloaca
A decrease in the fetal heart beat rate below 110 per minute or below the normal baseline value expected for the particular fetal age for a period of more than 10 minutes.
_
C92842
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Persistent Fetal Bradycardia
An increase in the fetal heart rate above the expected normal baseline values for an extended period.
_
C92843
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Persistent Fetal Tachycardia
A cardiopulmonary syndrome characterized by hypoxemia due to increased pulmonary vascular resistance and subsequent right-to-left shunting of the blood through the foramen ovale and ductus arteriosus.
_
C85006
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Persistent Fetal Circulation Syndrome
A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first.
_
C25191
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Person Name
Data, facts or figures about an individual; the set of relevant items would depend on the use case.
_
C90492
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Personal Information
A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies.
_
C18772
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Personal Medical History
A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.
_
C97179
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Pervasive Developmental Disorder
Any natural, endogenously-derived, synthetic or semi-synthetic compound with pharmacologic activity. A pharmacologic substance has one or more specific mechanism of action(s) through which it exerts one or more effect(s) on the human or animal body. They can be used to potentially prevent, diagnose, treat or relieve symptoms of a disease. Formulation specific agents and some combination agents are also classified as pharmacologic substances.
_
C1909
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pharmacologic Substance
The measurement of the amount of phenylalanine in a biologic specimen.
_
C81280
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Phenylalanine Measurement
The determination of the ratio of phenylalanine compared to tyrosine present in a sample. The measurement may be expressed as a ratio or percentage.
_
C81281
Phenylalanine/Tyrosine_Ratio_Measurement
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Phenylalanine to Tyrosine Ratio Measurement
A disorder characterized by the body's inability to break down and utilize the essential amino acid phenylalanine.
_
C81315
Classical_Phenylketonuria; PKU
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Phenylketonuria
A congenital malformation in which the upper portion of a limb is either shortened or absent.
_
C34928
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Phocomelia
A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.
_
C99015
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Phosphoenolpyruvate Carboxykinase Deficiency
A systemic evaluation of the body and it's functions using visual inspection, palpation, percussion and auscultation. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment.
_
C20989
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Physical Examination
An examination of the following neonatal attributes: 1) skin texture; 2) lanugo; 3) plantar creases; 4) breast; 5) eyes and ears; 6) genitals, male; and 7) genitals, female. It is a subscore of the Dubowitz/Ballard Examination for Gestational Age.
_
C89518
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Physical Maturity Assessment
A physical attribute of visual balance and proportion between opposing structures.
_
C81316
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Physical Symmetry
A physical feeling of being able to breathe better during late trimester of pregnancy when the baby starts to descend lower into the pelvic cavity.
_
C92844
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Physiologic Lightening
Position or arrangement, as of the teeth; the state of being placed or arranged, as the assignment of a person to a appropriate clinical study.
_
C41148
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Placement
A condition in which the placenta is implanted in the lower part of the uterus. --2003
_
C26858
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Placenta Previa
The separation of the placenta from the maternal uterine attachment when it occurs after the twentieth week of the pregnancy.
_
C26685
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Premature Separation of Placenta
A process in childbirth in which the placenta separates from its uterine lining, after the delivery of the baby.
_
C92854
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Postpartum Placental Separation
A reflex characterized by upward movement of the great toe and an outward movement of the rest of the toes, when the sole of the foot is stroked. It is a normal reflex up to the age of two. Its presence beyond that age indicates neurological damage.
_
C43247
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Babinski Sign
A finding that refers to a person with erythematous face.
_
C99018
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Plethoric Face
Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma.
_
C3331
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pleural Effusion
An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 5, 4, 6B, 7, 9V, 14, 18C, 19F, and 23F.
_
C97120
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pneumococcal 10-valent Conjugate Vaccine
An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F and 23F. It can also be used to prevent against otitis media by serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F.
_
C97121
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pneumococcal 13-valent Conjugate Vaccine
An polyvalent vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal polyvalent vaccine contains highly purified capsular antigens from the 23 most prevalent or invasive pneumococcal types of Streptococcus pneumoniae to ensure cross-protection. Following vaccination, protective capsular type-specific antibody levels typically develop by the third week; serotype-specific antibody levels generally decline after 5-10 years.
_
C1643
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pneumococcal Polyvalent Vaccine
An active immunizing agent used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal 7-valent conjugate vaccine consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F individually conjugated to diphtheria CRM 197 protein.
_
C38141
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pneumococcal 7-Valent Conjugate Vaccine
An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes individually conjugated to proteins.
_
C97123
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pneumococcal Conjugate Vaccine
An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.
_
C3333
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Pneumonia
The presence of air in the pericardial cavity. Causes include chest injury in adults, and respiratory distress syndrome in infants.
_
C99019
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pneumopericardium
The presence of air in the peritoneal cavity. Causes include perforated peptic ulcer, perforated bowel, and trauma.
_
C99012
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pneumoperitoneum
Abnormal presence of air in the pleural cavity.
_
C38006
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pneumothorax
The hour, minute, and/or second that an examination was administered.
_
C81297
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Point in Time Test Given
A rare developmental disorder characterized by underdevelopment or absence of the pectoralis muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and ipsilateral breast and nipple hypoplasia.
_
C85017
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Poland Syndrome
The administration a series of either live or inactivated poliovirus for the prophylaxis of poliomyelitis.
_
C96409
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Polio Vaccination
An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.
_
C35550
Polio
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Acute Poliomyelitis
An enterovirus comprised of an single-stranded positive sense RNA genome and a protein capsid. This virus is the human pathogen that causes poliomyelitis.
_
C14259
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Poliovirus
Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6.
_
C84579
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Autosomal Recessive Polycystic Kidney Disease
A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.
_
C92847
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Polycystic Ovary Syndrome
A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. Excessive proliferation of the myeloid lineage is observed as well. The major symptoms are related to hypertension or to vascular abnormalities caused by the increased red cell mass. The cause is unknown. With currently available treatment, the median survival exceeds 10 years. (WHO, 2001)
_
C3336
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Polycythemia Vera
A congenital abnormality characterized by more than 5 digits on a hand or foot.
_
C87110
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Polydactyly
An excess quantity of amniotic fluid in the amniotic sac as compared to normal values.
_
C92848
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Polyhydramnios
A genetic syndrome caused by mutations in the GNAS1 gene. It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation.
_
C34610
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Polyostotic Fibrous Dysplasia
A numerical chromosomal abnormality characterized by the presence of more than two sets of chromosomes.
_
C3338
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Polyploidy
A category of vaccines that use the extracted and purified outer polysaccharide coat of the particular bacteria.
_
C97125
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Polysaccharide Vaccine
A vaccine designed to elicit an immune response either to more than one infectious agent or to several different antigenic determinants of a single agent.
_
C2848
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Polyvalent Vaccine
Occurs either when an infant shows no interest in feeding or when there is an inability to take in adequate nutrition. Poor feeding is a nonspecific symptom of many disorders, including neurological, genetic, structural, metabolic, and infectious diseases.
_
C87111
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Poor Feeding
An examination whereby the patient is placed supine, the hip is flexed 90 degrees, and the knee is extended until firm resistance is met. The popliteal angle is the angle from the tibia to the femur. This measurement is used to assess hamstring contracture in children with cerebral palsy.
_
C89519
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Popliteal Angle Measurement
A congenital or acquired cystic cavity within the cerebral hemisphere.
_
C99020
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Porencephalic Cyst
Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.
_
C3119
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Portal Hypertension
A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.
_
C3840
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Nevus Flammeus
A test result indicating the presence of hormones (HCG) in the blood or urine of a woman that confirm pregnancy .
_
C92849
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Positive Pregnancy Test
Any system designed to expedite the sorting and delivery of mail by assigning a series of alphanumeric codes to each delivery area. Also used to refer to any individual delivery area code.
_
C25621
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Postal Code
A fetal position during delivery in which the head of the fetus is facing the mother's abdomen.
_
C92850
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Posterior Occiput Presentation
Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother.
_
C103170
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Postnatal Drug Withdrawal
The stage in the life of a mother after she has given birth.
_
C90338
NICHD Pediatric Terminology
Maternal Postnatal Stage
The period of time immediately after labor and delivery.
_
C92851
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Postpartum
A type of clinical depression that occurs after childbirth.
_
C92852
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Postpartum Depression
Hemorrhage defined as a blood loss in excess of 500 mL after vaginal delivery or more than 1000 mL after a cesarean delivery.
_
C92853
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Postpartum Hemorrhage
The recovery and readjustment process in a mother after pregnancy and delivery.
_
C92935
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Postpartum Process
The healing and recuperation of the mother including physiological readjustment after pregnancy and delivery of the baby.
_
C92936
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Postpartum Recovery
An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.
_
C3389
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Post-Traumatic Stress Disorder
The traditional unit of mass. By international agreement, one avoirdupois pound is equal to exactly 0.453 592 37 kilogram, 16 ounces, or 1.215 28 troy pounds.
_
C48531
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Pound
A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.
_
C75463
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Prader-Willi Syndrome
The stage in the life of a female during which she is attempting to get pregnant.
_
C90340
NICHD Pediatric Terminology
Maternal Preconception Stage
A pregnancy-related disorder characterized by an increase in the blood pressure after the twentieth week of gestation, and by the presence of proteinuria. It may appear up to six weeks post-partum. It may lead to eclampsia with development of tonic-clonic seizures.
_
C85021
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Preeclampsia
The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth.
_
C25742
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy
Pappalysin-1 (1627 aa, ~181 kDa) is encoded by the human PAPPA gene. This protein is involved in the modulation of proteolysis.
_
C91825
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pappalysin-1
The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus.
_
C34941
Complication_Related_to_Pregnancy
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Pregnancy Complication
A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.
_
C35169
Disorder of Pregnancy
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pregnancy Disorder
Symptoms, signs, diagnostic examinations or a test results in a pregnant mother.
_
C92720
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Finding
The most common complication of pregnancy. It may appear as chronic hypertension or preeclampsia. It may cause brain hemorrhage, pulmonary edema, abruptio placentae, gestational diabetes mellitus, renal failure, premature delivery and fetal growth abnormalities.
_
C4371
Pregnancy-Induced_Hypertension
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Pregnancy Associated Hypertension
Findings observed at the end of a pregnancy.
_
C90491
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Outcome
Any examination performed to assess if a female is gravid.
_
C92949
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Test
The duration of pregnancy from conception to childbirth.
_
C92858
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Time Period
A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.
_
C99022
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Prekallikrein Deficiency
Closure of the ductus arteriosus in utero. It results in pulmonary hypertension and right ventricular hypertrophy.
_
C99024
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Premature Closure of the Ductus Arteriosus
Ouster of a viable infant before the normal end of gestation, commonly defined as interruption of pregnancy between the twentieth-thirty seventh completed weeks after the onset of the last menstrual cycle.
_
C50917
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Premature Labor
The condition when a patient who is beyond 37 weeks gestation presents with rupture of membranes prior to the onset of labor. Rupture of membranes is diagnosed by speculum vaginal examination of the cervix and vaginal cavity, which will show pooling of fluid in the vagina or leakage of fluid from the cervix. Preterm PROM (known as PPROM) refers to a patient who has not yet reached 37 weeks gestation and presents with rupture of membranes.
_
C87113
PROM
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Premature Rupture of Membrane
The time period after impregnation and before birth.
_
C81318
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Prenatal
The stage in the life of a mother during which she is pregnant.
_
C90339
NICHD Pediatric Terminology
Maternal Prenatal Stage
A vitamin enriched supplement containing higher doses for specific nutrients such as folic acid, intended for women before, during and after pregnancy and also during their lactating phase.
_
C92860
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Prenatal Vitamin
The birth of an infant of less than 37 weeks for the gestational age.
_
C92861
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Preterm Birth
The period at birth when a newborn is born prior to the full gestational period.
A human life stage that begins at birth prior to thirty-seven weeks of full gestation (full term) and continues until twenty-seven complete days after birth.
C89888
NICHD Pediatric Terminology
Preterm Neonatal Stage
An infant born prior to completion of the normal gestation period.
_
C49642
NICHD Pediatric Terminology
Preterm Newborn Infant
An early rupture of the amniotic membranes during pregnancy and one that precedes 37 weeks of gestation.
_
C92862
PPROM
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Preterm Premature Rupture of Membrane
Therapeutic, nutritional, environmental, social and or behavioral interventions at the societal, community, organizational or individual levels to reduce, modify or stop the course of a disease.
_
C15843
NICHD Pediatric Terminology
Preventive Intervention
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function properly. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood.
C3131
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Immunodeficiency Syndrome
A malignant tumor at the original site of growth.
_
C84509
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Primary Malignant Neoplasm
A primary or metastatic tumor involving the structures of the eye (conjunctiva, cornea, uvea, retina), the lacrimal gland, and the orbit. Representative examples are melanoma, carcinoma, lymphoma, and retinoblastoma.
_
C4767
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Malignant Eye Neoplasm
An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.
_
C34803
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Primary Malignant Liver Neoplasm
Human prolactin (227 aa, 26 kDa precursor) is encoded by the human prolactin (PIT1) gene. This secreted lactogenic glycoprotein is expressed in both anterior pituitary lactotropes and the decidual endometrium. It acts primarily on the mammary gland and, in synergy with estrogen, induces progesterone release by corpus luteum cells to render the uterine mucosa suitable for implantation.
_
C778
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Prolactin
An abrupt and extended increase in the fetal heart rate during labor contractions.
_
C92863
Prolonged_Fetal_Heart_Rate_Acceleration
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Prolonged Fetal Heart Rate Acceleration
An extended decrease in the fetal heart rate compared to the normal baseline values.
_
C92864
Finding_of_Prolonged_Deceleration
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Prolonged Fetal Heart Rate Deceleration
A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.
_
C85030
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Propionic Acidemia
Abnormal protrusion of one or both eyes from the socket; causes include hyperthyroidism (particularly Graves disease); bleeding behind the eye; infection, inflammation, or tumors of the orbit; and vascular disorders.
_
C87114
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Proptosis
A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism.
_
C99025
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Protein C Deficiency
A term that refers to a chemistry test measuring a specific protein or enzyme in the peripheral blood or body fluid.
_
C64430
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Protein or Enzyme Type Measurement
A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism.
_
C99026
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Protein S Deficiency
A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes.
_
C85033
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Prune Belly Syndrome
The creation of hematoma outside the arterial wall following bleeding due to puncture of the arterial wall. Pseudoaneurysms can also occur in the heart chambers following myocardial infarction and bleeding.
_
C50711
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pseudoaneurysm
A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia.
_
C99027
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pseudohypoparathyroidism
A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.
_
C2893
NICHD Pediatric Terminology
Psychiatric Disorder
A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome.
_
C87130
Neck_Webbing
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Pterygium Colli
A congenital or acquired cardiovascular abnormality characterized by the narrowing of the lumen of the main pulmonary artery or its branches. Signs and symptoms include dyspnea, tachypnea, tachycardia, fatigue, and edema.
_
C99030
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Artery Stenosis
Pulmonary valve atresia not associated with a ventricular septal defect.
_
C99032
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Valve Atresia with Intact Ventricular Septum
Pulmonary valve atresia associated with the presence of a large ventricular septal defect. It may be a severe form of tetralogy of Fallot.
_
C99033
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Valve Atresia with Ventricular Septal Defect
The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.
_
C50713
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Embolism
Bleeding from the lung parenchyma.
_
C78578
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Hemorrhage
Increased pressure within the pulmonary circulation due to lung or heart disorder.
_
C3120
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Hypertension
Underdeveloped pulmonary arteries.
_
C103226
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Trunk Hypoplasia
A congenital heart defect characterized by complete atresia of the pulmonary valve. It is manifested during infancy with cyanosis, dyspnea, and tachypnea.
_
C99031
Congenital Atresia of the Pulmonary Valve; Pulmonary Atresia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Valve Atresia
Obstruction of the pulmonary vein in one or multiple sites. The obstruction is the result of wall thickening and narrowing of the lumen of the vein.
_
C99036
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Vein Stenosis
Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets.
_
C50715
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulmonary Stenosis
A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin.
_
C38085
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulse Oximetry
The rate of the pulse as observed in an artery, expressed as beats per minute. It can be measured at several anatomical sites, including the wrist, neck, temple, groin, behind the knees, or on top of the foot.
_
C49676
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pulse Rate
A finding indicating the quick and brisk constriction of the pupils in response to light.
_
C99136
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Normal Pupillary Response
While performing an assessment of the eyes, the examiner notes whether the pupils are equal and round, reactive to light, and have the ability to accommodate. If all findings are normal, the abbreviation PERRLA is noted in the examiner's account of the physical examination.
_
C87108
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Pupils Equal Round and Reactive to Light and Accommodation Result
While performing an assessment of the eyes, the examiner notes whether the pupils are equal, round, and reactive to light. If all findings are normal, the abbreviation PERRL is noted in the examiner's account of the physical examination.
_
C87107
Pupil_Equal_Round_and_Reacting_to_Light
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Pupils Equal Round and Reactive to Light Result
An acute or chronic inflammatory process affecting the kidney. It is caused by bacteria and in most cases it is the result of a urinary tract infection. Signs and symptoms include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.
_
C34965
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pyelonephritis
Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.
_
C34966
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pyloric Stenosis
A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.
_
C85040
Pyruvate Metabolism and Mitochondrial Respiratory Chain Disorder
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pyruvate Carboxylase Deficiency
A screening measurement in which the maternal blood levels of alpha-fetoprotein, unconjugated estriol, human chorionic gonadotrophin and Inhibin A are calculated. These are then evaluated in relation to the mother's age, weight and fetal gestational age.
_
C92865
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Quad Screen
A measurement expressed in words rather than numbers.
_
C92722
NICHD Pediatric Terminology
Qualitative
Capable of being estimated or expressed with numeric values.
_
C70766
NICHD Pediatric Terminology
Quantitative
An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution.
_
C17049
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Race
A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone.
_
C99038
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thrombocytopenia-Absent Radius Syndrome
The difference between the lowest and highest numerical values; the limits or scale of variation.
_
C38013
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Range
A non-infectious mixture containing recombinant hepatitis B surface antigen (HBsAg) in a liquid vehicle. Immunization with the hepatitis B vaccine induces the formation of specific anti-hepatitis B antibodies and an active immunity against hepatitis B infection.
_
C29091
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Hepatitis B Vaccine
A recombinant vaccine of different types of HPV proteins which are well-conserved within types with a significant inter-type variation.
_
C1951
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Human Papilloma Virus Vaccine
A vaccine produced from genetically engineered viral vector by introduction of foreign genetic materials to activate immune response in a host.
_
C1572
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Recombinant Viral Vaccine
Narrowing of the rectal lumen.
_
C78589
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rectal Stenosis
An abnormal communication between the rectum, bladder, and vagina.
_
C99040
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Recto-Vesico-Vaginal Fistula
The terminal portion of the gastrointestinal tract, extending from the rectosigmoid junction to the anal canal.
_
C12390
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Rectum
A frequently repeated decrease in the fetal heart rate that occurs in conjunction with a uterine contraction; this happens with the majority of heartbeats.
_
C92866
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Recurrent Fetal Heart Rate Deceleration
Damage to the recurrent laryngeal nerve.
_
C103171
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Recurrent Laryngeal Nerve Injury
An optic examination in which an ophthalmoscope or retinoscope is placed approximately 30cm from the eye to visualize whether a reddish hue is reflected from the retina.
_
C81283
Red_Reflex
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Red Reflex Vision Test
Coloration of the skin; sign of inflammation
_
C4077
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Redness
Sending a patient from one practitioner to another for health care services.
_
C52582
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Referral
An automatic instinctive unlearned reaction to a stimulus.
_
C78342
Reflex Finding; Reflex Observable
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Reflex
A component of the APGAR score, it is the numerical value assigned to the neonate's response to stimuli, such as a mild pinch. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry.
_
C81319
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Reflex Irritability Score
The administration of pharmaceutical agents intended to produce loss of sensation in a particular anatomical region.
_
C64381
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Regional Anesthesia Procedure
A consistent rhythmic pattern of uterine muscle tightening that occurs at regular intervals for the same duration of time.
_
C92867
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Regular Uterine Contraction
The nature and pattern of occurrence for the uterine contractions during labor.
_
C92868
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Regularity of Uterine Contraction
Flow in the opposite direction from normal, as the casting up of undigested food or gas from the stomach, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent.
_
C50726
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Regurgitation
A congenital abnormality characterized by the absence of one or both kidneys.
_
C99041
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Agenesis
A finding of congenital malformations in the kidney characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation.
_
C3847
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Cell Dysplasia
Acute or chronic condition, characterized by the inability of the kidneys to adequately filter the blood substances, resulting in uremia and electrolyte imbalances. Acute renal failure is usually associated with oliguria or anuria, hyperkalemia, and pulmonary edema. Chronic renal failure is irreversible and requires hemodialysis.
_
C4376
Renal Impairment
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Failure
Failure of the renal tubules of the kidney to excrete urine of normal acidity resulting in metabolic acidosis. It may lead to hypercalcinuria, nephrolithiasis, and renal failure. Causes include autoimmune disorders (e.g., Sjogren syndrome, systemic lupus erythematosus, and rheumatoid arthritis), medications (e.g., non steroidal anti-inflammatory drugs, diuretics, and blood pressure medications), Fanconi syndrome, or it may be familiar.
_
C28129
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Tubular Acidosis
A kidney disorder that results from the damage of the renal arteries or veins. It may lead to renal dysfunction and/or hypertension.
_
C35338
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Vascular Disorder
The formation of a blood clot (thrombus) in the renal vein.
_
C99042
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Vein Thrombosis
A Reproductive System Process involves a function of cellular, cell, or tissue components of the organ system involved in generation of offspring that includes the ovaries, fallopian tubes, uterus, cervix, and vagina in women or the prostate, testes, and penis in men.
_
C21173
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Reproductive Process
A non-neoplastic or neoplastic disorder that affects the male or female genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma.
_
C4875
Disorder of Reproductive System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Reproductive System Disorder
Symptoms, physical examination results, and/or laboratory test results related to the reproductive system.
_
C36284
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Reproductive System Finding
Systematic investigation into a subject in order to discover facts, establish or revise a theory, or develop a plan of action based on the facts discovered.
_
C15429
NICHD Pediatric Terminology
Research Activity
The sequence of numbers or characters, that when dialed, connects to a particular residential telephone.
_
C81284
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Residential Telephone Number
A group of conditions characterized by failure of normal respiration caused by lack of lung surfactant.
_
C27561
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Respiratory Distress Syndrome
Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure.
_
C26872
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Respiratory Failure
Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a central nervous system disorder.
_
C101332
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Respiratory Failure due to Central Nervous System Disorder
Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a neuromuscular disorder.
_
C101331
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Respiratory Failure due to Neuromuscular Disorder
Symptoms, physical examination results, and/or laboratory test results related to the respiratory system.
_
C45233
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Respiratory System Finding
The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute.
_
C49678
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Respiratory Rate
A non-neoplastic or neoplastic disorder that affects the tracheobronchial tree and/or the lung parenchyma. Representative examples include infections, carcinomas, and lymphomas.
_
C26871
Disorder of Respiratory System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Respiratory Disorder
Accidental inhalation of a foreign material into the lungs.
_
C83507
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Unintentional Material Aspiration
An abnormal structure or function of the retina and its associated tissues.
_
C26875
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinal Disorder
An examination of the retina of the eye using an ophthalmoscope.
_
C101217
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinal Examination
A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness.
Retinitis is inflammation of the retina in the eye.
C85045
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinitis Pigmentosa
A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
_
C7541
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinoblastoma
A rare syndrome that affects the fetus and is caused by the maternal use of retinoids during pregnancy. It is characterized by growth delay, skull and facial malformations, heart malformations, and central nervous system malformations.
_
C98929
Fetal Isoretinoin Syndrome
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Fetal Retinoid Syndrome
A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.
_
C34982
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity
An immature state in which retinopathy of prematurity cannot be established.
Retinopathy of prematurity occurs in premature infants who are born before the retinal vessels complete their normal growth. It results in disorganized growth of retinal blood vessels, which may lead to scarring and retinal detachment.
C101312
Retinopathy of Prematurity, Immature
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Immature Retinopathy of Prematurity
Retinopathy of prematurity located in zone 1 of the retina.
_
C99044
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity in Zone 1
Retinopathy of prematurity located in zone 2 of the retina.
_
C99045
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity in Zone 2
Retinopathy of prematurity located in zone 3 of the retina.
_
C99046
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity in Zone 3
An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 1: Demarcation Line is a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina.
C99047
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity Stage 1 Demarcation Line
An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of an elevated ridge.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 2: Intraretinal Ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it.
C99048
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity Stage 2 Intraretinal Ridge
An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 3: Ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive.
C99049
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity Stage 3 Ridge with Extraretinal Fibroblastic Proliferation
An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of subtotal retinal detachment.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 4: Subtotal Retinal Detachment the retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present.
C99050
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity Stage 4 Subtotal Retinal Detachment
An opthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of total retinal detachment.
Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or "immature". In Stage 5: Total Retinal Detachment, the retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed.
C99051
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity Stage 5 Total Retinal Detachment
A stage of retinopathy of prematurity characterized by the presence of the following in at least two quadrants around the optic nerve: dilation and tortuosity of major retinal vasculature as a result of increased blood flow.
_
C101036
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Retinopathy of Prematurity with Plus Disease
A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.
_
C75488
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Rett Syndrome
An immunology test to measure for the presence of the Rh factor antigen in blood.
_
C92948
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Rh Factor Measurement
The administration of Rh Immune Globulin to a pregnant mother to ameliorate the effects of conflicting Rh factors during pregnancy.
_
C92947
Rho(D) Immune Globulin Administration
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Rh Immune Globulin Administration
A complication during pregnancy; it occurs when the mother is Rh-negative and the infant is Rh-positive. The mother's body develops antibodies against the fetal red blood cells leading to their destruction. This complication generally does not affect first-born Rh-positive babies. Rh-positive newborn babies from subsequent pregnancies develop complications of Rh incompatibility which include hemolysis, jaundice, enlarged liver and spleen, petechiae, hypotonia, neurologic damage, and heart problems.
_
C84504
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Rh Incompatibility
A benign neoplasm arising from striated muscle. It is characterized by the presence of rhabdomyoblasts.
_
C3358
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rhabdomyoma
A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.
_
C3359
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rhabdomyosarcoma
An immunology test that detects the quantity of anti-Rhesus antibodies in the serum of a pregnant woman.
_
C99052
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rh Titer Measurement
An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.
_
C85047
Rhizomelic Dwarfism
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rhizomelic Chondrodysplasia Punctata
An abnormal sound similar to snoring heard on auscultation of the bronchial airways, suggesting a partial obstruction due to thick secretions, a muscular spasm, or a neoplasm.
_
C87116
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rhonchi
Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.
_
C26878
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rickets
A syndrome resulting from structural defects of the arteries that arise from the aortic arch. Signs and symptoms include weakness, dizziness, arm numbness, blurred vision and transient ischemic attacks.
A congenital anomaly in which the aorta is displaced to the right and passes behind the esophagus, thus forming a vascular ring that may cause compression of the trachea and esophagus.
C34391
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Aortic Arch Syndrome
The organ of hearing located on the right side of the head.
_
C81285
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Right Ear
A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment.
_
C99053
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Hypoplastic Right Heart Syndrome
A fetal position during delivery in which the fetus is in the birth canal and the back of the head is oriented towards the maternal right thigh region.
_
C92871
ROA
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Right Occiput Anterior Presentation
Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury.
_
C17103
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Risk Factor
A systematic gathering of information regarding the variables associated with an individual's increased risk of disease or infection.
_
C90498
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Risk Factor Assessment
A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate.
_
C85010
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Pierre Robin Syndrome
An involuntary, primal response in the neonate to search for the nipple when the cheek is touched.
_
C81320
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Rooting Reflex
A genus of double stranded RNA viruses that carry 11 unique double helix molecules of RNA that encode one or two proteins each. The RNA is surrounded by a three-layered icosahedral protein capsid. Viral particles are up to 76.5 nm in diameter and are not enveloped.
_
C77199
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Rotavirus
A viral vaccine that prevents against rotavirus infection, the leading cause of severe acute gastroenteritis.
_
C96394
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Rotavirus Vaccine
Designation of the part of the body through which or into which, or the way in which, the medicinal product is intended to be introduced. In some cases a medicinal product can be intended for more than one route and/or method of administration.
_
C38114
NICHD Pediatric Terminology
Route of Administration
The time measurement between the R wave of successive heartbeats as measured in milliseconds.
_
C69284
NICHD Pediatric Terminology
Neonatal Research Network Terminology
RR Interval
The administration of a live attenuated viral vaccine to prevent rubella infection.
_
C92872
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Rubella Immunization
A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.
_
C85051
German Measles
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Rubella Infection
A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.
_
C75466
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Rubinstein-Taybi Syndrome
Breaking or tearing of the amniotic membranes during childbirth leading to the leakage of amniotic fluid and the progression of labor.
_
C92874
amniorrhexis; breaking water
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Rupture of Membrane
A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.
_
C85068
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Silver-Russell Syndrome
A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine.
_
C99054
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Caudal Regression Syndrome
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
_
C87118
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sacral Dimple
A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column.
_
C101212
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sacral Meningocele
Herniation of spinal cord tissue and meninges through a defect in the sacral region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.
_
C98900
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sacral Myelocele
A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
_
C101207
Congenital Sacral Meningocele
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sacral Myelomeningocele
A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.
_
C99055
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sacrococcygeal Teratoma
A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.
_
C75034
Acrocephalosyndactyly Type III
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type III Acrocephalosyndactyly
A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.
_
C9118
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sarcoma
A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene.
_
C81288
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
S-Beta Thalassemia
When testing the newborn infant for neuromuscular maturity, the "scarf sign" test is carried out by drawing the newborn's arm across the chest to the opposite shoulder until resistance is felt. In term infants, the elbow should not cross the midline of the chest.
_
C89521
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Scarf Sign
A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures.
_
C99056
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Schizencephaly
The separation of the placenta from the uterine wall during labor; it begins at the placental center and leads to an expulsion of the placenta after delivery of the baby.
_
C92846
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Placental Schultze Mechanism
A rare congenital cardiopulmonary defect characterized by abnormal right-sided pulmonary venous drainage and right lung malformations.
_
C85056
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Scimitar Syndrome
A congenital or acquired spine deformity characterized by lateral curvature of the spine.
_
C78603
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Scoliosis
A test to determine if an individual has antibodies to the varicella zoster virus.
_
C92916
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Varicella Zoster Virus Screening
Testing to determine if there is a predisposition or indication of a possible genetic or a chromosomal abnormality.
_
C92803
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Genetic Screening
A test during pregnancy to determine maternal exposure to the rubella virus that could lead to pregnancy complications or congenital rubella syndrome in the newborn.
_
C92873
Rubella_Screening
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Rubella Screening
A group of tests performed during pregnancy to assess fetal health and to detect for genetic abnormalities and various disorders.
_
C92721
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Related Screening
A stage during labor and childbirth when the cervix is effaced totally and remains dilated until the birth of the baby.
_
C92875
Birthing Stage
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Second Stage of Labor
The period of gestation that ranges from the 13th to the 27th week of pregnancy.
_
C92876
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Second Trimester
Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin.
_
C2962
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Seizure
A persistent failure to speak in certain social situations (i.e., school) where speaking is expected, despite speaking in other situations.
_
C92569
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Selective Mutism
Hearing loss caused by a problem in the inner ear or auditory nerve. A sensorineural loss often affects a person's ability to hear some frequencies more than others. This means that sounds may be appear distorted, even with the use of a hearing aid. Sensorineural losses can range from mild to profound.
_
C26739
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Sensorineural Deafness
An interruption or alteration in the sensory activity or functions of the nervous system.
_
C63711
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Neurosensory Disorder
An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.
_
C35014
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Separation Anxiety Disorder
The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.
_
C3364
Sepsis_Syndrome
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Septicemia
A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.
_
C85063
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Septo-Optic Dysplasia
Bronchopulmonary dysplasia that results in severe respiratory complications. The infants with severe symptoms are usually premature, have low birth weight, and the oxygen and ventilation support requirements are increased.
_
C99057
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Severe Bronchopulmonary Dysplasia
The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female.
_
C28421
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Sex
Prevention of contraception by not engaging in sexual intercourse.
_
C92877
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Sexual Abstinence
A congenital disorder characterized by abnormalities in the development of the sexual characteristics.
_
C103186
Disorder of Sexual Differentiation
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sexual Differentiation Disorder
A test to detect the presence of a sexually transmissible disease such as HIV, chlamydia, syphilis, gonorrhea, hepatitis B or hepatitis C.
_
C92878
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Sexually Transmitted Disease Screening
A life-threatening condition that requires immediate medical intervention. It is characterized by reduced blood flow that may result in damage of multiple organs. Types of shock include cardiogenic, hemorrhagic, septic, anaphylactic, and traumatic shock.
_
C35016
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Shock
A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.
_
C99058
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Shone Syndrome
Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the presence of congenital small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss.
_
C99059
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Short Bowel Syndrome
The most common form of Hirschsprung Disease, this is characterized by a lack of nerve cells in the sigmoid colon and rectum. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary.
_
C101041
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Short Segment Hirschsprung Disease
A non-sustained irregular fetal heart rate in comparison to normal baseline values.
_
C92879
Short_Term_Variability
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Short-Term Fetal Heart Rate Variability
The region of the body between the neck and the upper arm.
_
C25203
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Shoulder
Abnormal labor or childbirth due to fetal shoulder obstruction in the vaginal canal.
_
C81290
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Shoulder Dystocia
A fetal position during delivery in which the shoulder descends into the birth canal first.
_
C92880
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Shoulder Presentation
A neonate that is unwell.
_
C81291
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Sick Newborn
A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.
_
C34383
Sickling_Disorder_due_to_Hemoglobin_S; Hereditary Hemoglobinopathy Disorder Homozygous for Hemoglobin S
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Sickle Cell Disease
A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.
_
C95539
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sickle Beta Thalassemia
The indicating characteristics in a pregnant mother who is in the process of labor and delivery of a fetus; common signs and symptoms include nesting, anxiety, excitement, loss of mucous plug, increased urinary frequency and loose bowel movements.
_
C92881
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Signs of Impending Birth
Objective evidence of disease perceptible to the examining practitioner (sign) and subjective evidence of disease perceived by the patient (symptom).
_
C100104
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Sign or Symptom
A fetal position during delivery in which the frontal part of the skull including forehead and the top of the head is first to descend into the birth canal.
_
C92882
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Sinciput Presentation
A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.
_
C87120
Single_Transverse_Palmar_Crease
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Single Palmar Crease
A diverse group of congenital cardiovascular abnormalities that share one characteristic, the presence of a single functional cardiac ventricle.
_
C99060
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Single Ventricle Defect
An acute or chronic infectious process affecting the mucous membranes of the paranasal sinuses.
_
C35024
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Sinusitis
A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).
_
C87121
Situs Ambiguus; Situs Inversus Viscerum
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Situs Inversus
A congenital condition in which there is complete right-to-left reversal of the position of the thoracic organs.
_
C99061
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Situs Inversus Thoracis
Alterations in the skin's appearance during pregnancy due to hormonal level changes.
_
C92856
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Related Skin Change
A component of the APGAR score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = pale blue; 1 = pink body and pale blue extremities; 2 = pink body and extremities.
_
C81321
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Skin Color Score
Hematopoiesis that occurs outside of the bone marrow. It occurs during fetal development or it may result from pathologic processes that affect the bone marrow.
_
C41235
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Extramedullary Hematopoiesis
A pathologic process that affects the skin and is confined to a specific area.
_
C39688
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Localized Skin Lesion
A circumscribed inflammatory and often suppurating and necrotic lesion on the skin. Causes include trauma, peripheral vascular disorder, diabetes, exposure to heat or cold, exposure to corrosive agents, infections, and prolonged staying in one position (pressure ulcer).
_
C54247
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Skin Ulcer
Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.
_
C39594
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Skin Rash
A natural and periodic state of rest during which consciousness of the world is suspended.
_
C73425
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Sleep
A change from the patient's baseline sleeping pattern, either an increase or a decrease in the number of hours slept. This can also refer to alterations in the stages of sleep.
_
C3376
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sleep Disorder
A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.
_
C85071
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Smith-Lemli-Opitz Syndrome
A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others.
_
C29719
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Smoking History
A symptom consisting of the involuntary expulsion of air from the nose.
_
C50746
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Sneezing
An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.
_
C34927
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Social Phobia
Past events that occurred between individuals and/or their communities.
_
C81292
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Social History
Abnormal fluid filled sac within the kidney, either acquired or congenital.
_
C3970
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Renal Cyst
Abnormally low levels of circulating somatotropin.
_
C102986
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Somatotropin Deficiency
A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads.
_
C75019
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sotos Syndrome
A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.
_
C34781
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spastic Diplegia
A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes.
_
C3492
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Enzyme Deficiency
An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.
_
C35284
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Specific Phobia
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
_
C5041
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Speech Manifestations
A vaginal cream that is deleterious to sperm.
_
C92883
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Spermicidal Cream
A vaginal foam that is deleterious to sperm.
_
C92884
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Spermicidal Foam
A vaginal jelly that is deleterious to sperm.
_
C92885
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Spermicidal Jelly
A chemical product that is deleterious to sperms and can be in the form of either a jelly, foam, or cream.
_
C92886
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Spermicide
A hereditary or acquired blood disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.
_
C85074
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spherocytosis
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.
_
C61269
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Niemann-Pick Disease
A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.
_
C101214
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spina Bifida
The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an xray is performed. Treatment is symptomatic.
_
C101044
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spina Bifida Occulta
A procedure in which a pharmaceutical agent is administered into the subarachnoid space, producing a loss of sensation at and below the level of the block.
_
C92887
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Spinal Block
Ischemic necrosis of the spinal cord due to spinal artery occlusion during the birthing process.
_
C101272
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spinal Cord Infarct during Birth
Traumatic damage of the spinal cord.
_
C50750
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spinal Cord Injury
A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance.
_
C99064
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spinal Deformity
An injury to the spinal cord sustained during the birthing process.
_
C101278
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spinal Injury due to Birth Trauma
An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.
_
C85075
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spinal Muscular Atrophy
A hole through the wall of an organ that occurs without external influence.
_
C99145
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Spontaneous Perforation
The normal rupture of the amniotic sac in a full term pregnant mother at the onset of labor.
_
C92888
SROM
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Spontaneous Rupture of Membrane
When testing the newborn infant for neuromuscular maturity, the "square window" test measures wrist flexibility and resistance to extensor stretching, The examiner straightens the infant's fingers and applies gentle pressure on the dorsum of the hand, close to the fingers, and then estimates the angle between the palm of the hand and the forearm.
_
C89520
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Square Window
A method of fetal ECG surveillance during labor that monitors the ST segment, to indicate any fetal hypoxia.
_
C92889
STAN
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
ST Waveform Analysis
The various distinct periods of the labor and childbirth process. It involves uterine contractions and cervical dilation to expel the fetus and for the baby to be born.
_
C92723
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Stage of Labor
An involuntary, primal response in the neonate to take brisk steps when the feet are placed on a surface whilst in a supported standing position.
_
C81322
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Step Reflex
Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol.
_
C101042
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Steroid 21-Monooxygenase Deficiency
A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.
_
C74984
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Stickler Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
_
C35040
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Strabismus
The numeric or alphabetic identifier of a building on a thoroughfare.
_
C81293
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Street Number
The visible, linear scarring in the dermis, predominantly of the abdomen due to the stretching of tissue and related hormonal changes during pregnancy.
_
C92857
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Pregnancy Stretch Mark
Fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing.
_
C98962
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Intestinal Stricture
An intervention during labor and delivery, of gently sweeping the amniotic membrane to separate it from the attachment to the lower uterine segment.
_
C92890
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Stripping of Membrane
A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits.
_
C3391
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sturge-Weber Syndrome
Intracranial hemorrhage into the subarachnoid space.
_
C50757
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Subarachnoid Hemorrhage
Drug administration beneath the skin. It provides for relatively slow, sustained release of the drug. The rate of absorption into the blood is perfusion-limited, proportional to the amount of drug at the site and can be enhanced by chemical or physical stimulation of blood flow. Subcutaneous administration minimizes the risks associated with intravascular injection: for subcutaneous infusions, external and implantable pumps are used.
_
C38299
NICHD Pediatric Terminology
Subcutaneous Route of Administration
Cerebral hemorrhage into the subdural space. See also Stroke Syndrome.
_
C50759
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Subdural Hemorrhage
Bleeding in the area between the scalp and the skull.
_
C50761
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Subgaleal Hemorrhage
The hospital or medical institution that is submitting data or information.
_
C81294
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Submitting Facility
An involuntary, primal response in the neonate when a nipple is placed on an infant's lips.
_
C81323
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Sucking Reflex
A rare, congenital or acquired aortic stenosis characterized by localized or diffuse narrowing of the ascending aorta.
_
C85176
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Supravalvular Aortic Stenosis
Stenosis of the pulmonary artery that occurs above the valve.
_
C99066
Pulmonary Artery Stenosis, Supravalvar
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Supravalvular Pulmonary Artery Stenosis
An electrocardiographic finding of an arrhythmia originating in the atrium, AV node or AV junction.
_
C27158
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Supraventricular Arrhythmia
An electrocardiographic finding of a tachycardia originating above the level of the ventricles.
_
C35061
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Supraventricular Tachycardia
Deficiency of surfactant protein A. When present in normal amounts, this protein protects the lungs against a variety of bacteria, viruses, and fungi.
_
C99072
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Surfactant Protein A Deficiency
Deficiency of surfactant protein ABCA3. It leads to respiratory distress that is often fatal.
_
C99070
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Surfactant Protein ABCA3 Deficiency
A congenital deficiency of one of the surfactant proteins.
_
C99067
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Surfactant Protein Deficiency
Deficiency of surfactant protein B. It presents with severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant.
_
C99068
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Surfactant Protein B Deficiency
Deficiency of surfactant protein C. It leads to progressive lung fibrosis.
_
C99069
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Surfactant Protein C Deficiency
Deficiency of surfactant protein D. When present in normal amounts, this protein offers protection against pulmonary infection and inflammation.
_
C99071
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Surfactant Protein D Deficiency
A method of achieving contraception with the aid of a surgical procedure that prevents fertilization of an egg by a sperm.
_
C92892
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Surgical Contraception
An intentional cut made to an individual's body with the intent of performing a diagnostic or therapeutic intervention.
_
C15384
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Surgical Incision
A diagnostic or treatment procedure performed by manual and/or instrumental means, often involving an incision and the removal or replacement of a diseased organ or tissue; of or relating to or involving or used in surgery or requiring or amenable to treatment by surgery.
_
C15329
NICHD Pediatric Terminology
Surgical Procedure
The diagnosis assigned when a health care practitioner feels strongly the patient has necrotizing enterocolitis, but lacks definitive proof.
_
C101273
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Suspected Necrotizing Enterocolitis
The loss of a watery fluid, consisting mainly of sodium chloride and urea in solution, that is secreted by the sweat glands in the skin of mammals.
_
C36172
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Sweating
A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.
_
C87125
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Syndactyly
A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.
_
C3988
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Inappropriate Antidiuretic Hormone Secretion Syndrome
An infant that was born to a mother who persistently had high glucose blood levels during pregnancy. The infants of diabetic mothers are large for their gestational age and may develop hypoglycemic episodes soon after birth.
_
C98955
IDM
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Infant of Diabetic Mother
Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source.
_
C102954
Hypertensive Disorder, Systemic Arterial
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Systemic Arterial Hypertensive Disorder
A clinical course finding indicating that a disease presents with systemic manifestations.
A disorder that affects in multiple tissue types or in multiple organ systemsis, or affects the body as a whole.
C9229
NICHD Pediatric Terminology
Systemic Disease
Tachycardia; an abnormally rapid heartbeat, usually applied to a heart rate above 100 per minute.
Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased.
C38029
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tachycardia
A frequency of uterine contraction that is higher than normal.
_
C92911
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Tachysystole
A practiced and regimented skill or series of actions.
_
C16847
NICHD Pediatric Terminology
Technique
A pregnancy in an adolescent between the ages of thirteen and nineteen.
_
C92939
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Teenage Pregnancy
A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network.
_
C40978
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Telephone Number
A measure of the average kinetic energy of a system of particles. Temperature may be quantified, in the context of thermodynamics, as the potential of one system to transfer thermal energy to another system until both systems reach a state of thermal equilibrium.
_
C25206
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Temperature
Terms used to indicate units of time or other terms associated with time.
_
C21514
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Temporal Qualifier
An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.
_
C26885
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Testicular Torsion
Inadequate production of circulating testosterone.
_
C102987
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Testosterone Biosynthesis Deficiency
A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.
_
C85185
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Tetanus
A sterile, intramuscular suspension of alum (aluminum potassium sulfate)-precipitated toxoids indicated for active immunization for the prevention of tetanus and diphtheria for use in persons 7 years of age or older.
_
C96405
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Tetanus and Diphtheria Toxoids Adsorbed
A preparation of formaldehyde-deactivated toxin isolated from the bacterium Clostridium tetani. Tetanus toxoid is used for booster injection and can stimulate the production of antitoxin antibodies. This agent may be used as an adjuvant in cancer vaccines.
_
C2660
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Tetanus Toxoid Vaccine
A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.
_
C99080
Spinal Cord Syndrome
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tethered Spinal Cord Syndrome
A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.
_
C99081
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Arakawa's Syndrome II
A congenital heart disorder characterized by the presence of the following four abnormalities: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.
_
C84505
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tetralogy of Fallot
A rare congenital heart anomaly in which there is coexistence of tetralogy of Fallot and complete atrioventricular septal defect. The latter is characterized by defects in the atrial and ventricular septa and a common atrioventricular valve.
_
C101322
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Complete Atrioventricular Septal Defect with Tetralogy of Fallot
An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
_
C35069
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thalassemia
Congenital abnormalities in a fetus caused by thalidomide that the mother took during pregnancy. The congenital abnormalities include phocomelia, and malformations of the ears, eyes, nervous system, heart, and kidneys.
_
C99082
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thalidomide-Induced Birth Defect
A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.
_
C85187
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thanatophoric Dysplasia
Intentional end of pregnancy by the removal or expulsion of a fetus or embryo from the uterus to preserve the health of the gravida (pregnant female).
_
C92894
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Therapeutic Abortion Procedure
An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process.
_
C49236
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Therapeutic Procedure
A stage during labor and childbirth that starts with the birth of the baby and ends with the delivery of the placenta.
_
C92895
Placental Stage
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Third Stage of Labor
The period of gestation that ranges from the 28th week of pregnancy until delivery.
_
C92896
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Third Trimester
A congenital abnormality in the thoracic region of the spine in which the meninges protrude through a defect in the spinal column.
_
C101213
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thoracic Meningocele
Herniation of spinal cord tissue and meninges through a defect in the thoracic region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.
_
C99128
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thoracic Myelocele
A congenital abnormality in the thoracic region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
_
C101208
Thoracic Meningomyelocele
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thoracic Myelomeningocele
The division of the body lying between the neck and the abdomen.
_
C12799
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Thorax
A condition in which there is an abnormally small number of platelets in the circulating blood.
_
C3408
Thrombocytopenic_Disorder
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Thrombocytopenia
A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood.
_
C35530
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thrombocytosis
A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.
C84479
NICHD Pediatric Terminology
Excessive Blood Clotting
A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.
_
C85189
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Thyroglossal Duct Cyst
A quantitative measurement of the amount of thyrotropin present in a sample.
_
C64813
Thyroid_Stimulating_Hormone_Measurement
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Thyrotropin Measurement
The continuum of experience in which events pass from the future through the present to the past.
_
C25207
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Time
The recording of uterine muscle contractions during pregnancy and labor.
_
C92897
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Tocodynamometry
A child that is approximately between 12 and 18 months of age.
_
C89342
NICHD Pediatric Terminology
Toddler
The period of life between 13 months and 2 years of age.
A human life stage that begins at thirteen months of age and continues until twenty-four complete months of age.
C89890
NICHD Pediatric Terminology
Toddler Stage
One of the terminal digits of the foot.
_
C33788
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Toe
An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward.
_
C81324
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tonic Neck Reflex
The total linear extent of the body.
_
C81298
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Total Body Length
The severe form of Hirschsprung disease, this is characterized by a complete lack of nerve cells in the large intestine, and often a partial lack in the small intestine. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary.
_
C101040
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Total Colonic Aganglionosis
A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease.
_
C101074
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Total Intestinal Aganglionosis
The determination of the amount of free and bound thyroxine present in a sample.
_
C74794
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Total Thyroxine Measurement
A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.
_
C35078
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Tourette Syndrome
An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.
_
C99085
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Townes-Brocks Syndrome
A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.
_
C34943
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Toxemia of Pregnancy
An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. Signs and symptoms include cyanosis, dyspnea, headache, fatigue, mental status changes, and loss of consciousness.
_
C34817
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Methemoglobinemia
Any vaccine that contains an inactivated toxic substance used for disease prophylaxis or to vaccinate against snake bites.
_
C96398
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Toxoid Vaccine
A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.
_
C3418
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Toxoplasmosis
A group of blood tests used to detect antibodies to Toxoplasma gondii, rubella, cytomegalovirus, and herpes simplex virus to rule out congenital infections. A group of other infections may be tested as well, including varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis.
_
C98602
NICHD Pediatric Terminology
Neonatal Research Network Terminology
TORCH Antibody Measurement
A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.
_
C98609
NICHD Pediatric Terminology
Neonatal Research Network Terminology
TORCH Syndrome
Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage.
_
C98619
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Total Parenteral Nutrition - Associated Cholestasis
A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight.
_
C98622
Congenital Cleft Larynx
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Laryngeal Cleft
A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.
_
C35079
Disorder of Trachea
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tracheal Disorder
Narrowing of the lumen of the trachea.
_
C78646
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tracheal Stenosis
A rare congenital or acquired abnormality characterized by the presence of a web-like thin layer of tissue that narrows the lumen of the trachea. It may result in wheezing, dyspnea, and respiratory failure.
_
C98629
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tracheal Web
A congenital or acquired abnormal communication between the trachea and the esophagus.
_
C35080
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tracheoesophageal Fistula
A congenital or acquired abnormality of the wall of the trachea. In congenital cases, there is lack of rigidity in the cartilage of the tracheal wall. In acquired cases, the cartilage of the tracheal wall is degenerated, secondary to tracheostomy or prolonged presence of a breathing tube, or as a complication of a tracheoesophageal fistula surgical repair. Symptoms include stridor, noisy breathing, and upper respiratory infections.
_
C98634
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tracheomalacia
A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase.
_
C81325
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Transferase Deficiency Galactosemia
Thrombocytopenia that develops in neonates. It is caused by the development of antibodies against platelet antigens and may lead to hemorrhage.
_
C98995
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Transient Neonatal Thrombocytopenia
The period during the first stage of labor and childbirth that involves strong uterine contractions and maximal cervical dilatation.
_
C92942
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Transition Phase of Labor
A respiratory disorder characterized by higher than normal respiratory rates among premature and cesarean section delivered neonates whose lungs have not fully matured. The cause is often excess fluid in the lungs, and resolution is aided by suupplemental oxygen and sometimes, antibiotics.
_
C101037
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Transient Tachypnea of the Newborn
A congenital cardiac defect in which two heart vessels are reversed (transposed).
_
C84742
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Transposition of Great Vessels
A fetal position during delivery in which the alignment of the spine of the fetus is not parallel to the mother's spine.
_
C92898
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Transverse Fetal Presentation
A fetal position during delivery in which the face is towards one of the mother's thighs while descending into the birth canal.
_
C92899
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Transverse Occiput Presentation
Accumulation of lymph fluid in the pleural cavity as a result of thoracic trauma.
_
C101274
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Traumatic Chylothorax
Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.
_
C3671
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Injury
A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.
_
C75018
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Treacher Collins Syndrome
The shaking movement of the whole body or just a certain part of it, often caused by problems of the neurons responsible for muscle action.
_
C38038
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tremor
The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.
_
C50843
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tricuspid Regurgitation
Narrowing or stricture of the tricuspid orifice of the heart.
_
C50783
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tricuspid Stenosis
A period of three months; especially one of the three three-month periods into which human pregnancy is divided.
_
C69121
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Trimester
A screening method in which maternal blood levels of alpha-fetoprotein, unconjugated estriol and human chorionic gonadotrophin are calculated. The results are subsequently evaluated in relation to the mother's age, weight and fetal gestational age.
_
C92900
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Triple Screen
A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects.
_
C85204
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Triploidy Syndrome
A synthetic vaccine consisting of three inactivated influenza viruses, two different influenza type A strains and one influenza type B strain. Trivalent influenza vaccine is formulated annually, based on influenza strains projected to be prevalent in the upcoming flu season. This agent may be formulated for injection or intranasal administration.
_
C2643
Flu prevention; Flu prophylaxis; Flu shot; Flu vaccination
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Trivalent Influenza Vaccine
A method of female sterilization where the fallopian tubes are surgically ligated to prevent conception.
_
C92901
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Tubal Ligation
An ectopic pregnancy that occurs in the fallopian tube instead of the uterine corpus. Causes include pelvic inflammatory disease and prior pelvic surgery. It may result in severe abdominal pain, vaginal bleeding, and tubal rupture.
_
C92946
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Tubal Pregnancy
Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
_
C3424
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Tuberous Sclerosis
A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.
_
C26900
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Turner Syndrome
A live attenuated oral virus vaccine used to prevent typhoid, which is caused by Salmonella typhi.
_
C97126
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Ty21a Typhoid Vaccine
Thanatophoric dysplasia characterized by a normally shaped skull and curved femurs. It is the most common type of thanatophoric dysplasia.
_
C98583
Thanatophoric Dysplasia, Type 1
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type 1 Thanatophoric Dysplasia
Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
_
C98584
Thanatophoric Dysplasia, Type 2
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type 2 Thanatophoric Dysplasia
Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the superior vena cava.
Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 1, supracardiac TAPVR, the pulmonary veins drain to the right atrium via the superior vena cava. In this type of TAPVR, the pulmonary veins come together behind the heart and then drain upwards to an abnormal vertical vein. This vein joins the innomiate vein which connects to the right superior vena cava and drains to the right atrium.
C98590
Total Anomalous Pulmonary Venous Return, Type I (Supracardiac)
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type I Total Anomalous Pulmonary Venous Return
Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the coronary sinus.
Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 2, intracardiac TAPVR, the pulmonary veins come together behind the heart and then drains to the right atrium through the coronary sinus. The coronary sinus is the vein that normally returns blood from the heart muscle itself back to the right atrium after its oxygen has been depleted. The coronary sinus drains directly into the right atrium.
C98592
Total Anomalous Pulmonary Venous Return, Type II (Intracardiac)
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type II Total Anomalous Pulmonary Venous Return
Total anomalous pulmonary venous return in which the common pulmonary vein connects to the portal venous system through the diaphragm.
Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 3, infracardiac TAPVR, the pulmonary veins drain to the right atrium via the hepatic (liver) veins and inferior vena cava. In this type, the pulmonary veins join together behind the heart and then typically drain downwards, connecting to the liver's portal vein system. They then drain through the vascular bed of the liver and enter the right atrium from the hepatic veins.
C98597
Total Anomalous Pulmonary Venous Return, Type III (Infradiaphragmatic/Infracardiac)
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type III Total Anomalous Pulmonary Venous Return
Total anomalous pulmonary venous return in which the right and left pulmonary arteries drain into different sites.
Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 4, TAPVR,the right and left pulmonary arteries drain into different sites.
C98598
Total Anomalous Pulmonary Venous Return, Type IV (Mixed)
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type IV Total Anomalous Pulmonary Venous Return
A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.
_
C35089
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Typhoid Fever
Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure.
_
C98641
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Type I Tyrosinemia
A technique in which high-frequency sound waves are bounced off internal organs and the echo pattern is converted into a 2 dimensional picture of the structures beneath the transducer.
_
C17230
Ultrasound
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Ultrasonography
An abnormal situation in utero, when there is increased pressure on the umbilical cord, which constricts blood supply to the fetus.
_
C92902
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Umbilical Cord Compression
An obstetric emergency when the umbilical cord is pushed into the vagina ahead of the baby and becomes compressed, cutting off the flow of blood to the baby.
_
C87126
Prolapsed Cord
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Umbilical Cord Prolapse
The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.
_
C12326
Undescended_Testicle
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Undescended Testis
A rare congenital abnormality characterized by the complete absence of ocular tissue in one orbit.
_
C101188
Anophthalmos, Unilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Unilateral Anophthalmos
A congenital abnormality characterized by the underdevelopment of one optic nerve.
_
C101269
Hypoplasia of the Optic Nerve, Unilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Unilateral Optic Nerve Hypoplasia
A congenital abnormality characterized by the presence of one abnormally small eye globe and one normally sized eye globe.
_
C101190
Microphthalmos, Unilateral
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Unilateral Microphthalmos
A congenital abnormality characterized by the absence of one kidney.
_
C101220
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Unilateral Renal Agenesis
A named quantity in terms of which other quantities are measured or specified, used as a standard measurement of like kinds.
_
C25709
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Unit of Measure
An arbitrary unit of substance content expressed in unit(s) per gram.
_
C77606
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Unit per Gram
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
_
C84785
Disorder of Urea Cycle Metabolism
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Inborn Urea Cycle Disorder
A characteristic sign of impending birth in the mother during the second stage of labor; she feels like bearing down due to the pressure of the baby in the birth canal.
_
C92903
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Urge to Push
Disorders of any part of the urologic system.
_
C3430
Disorder of Urinary System
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Urinary System Disorder
A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.
_
C50791
Urinary_Tract_Infectious_Disease
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Urinary Tract Infection
Blockage of the normal flow of contents of the urinary tract.
_
C79805
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Urinary Tract Obstruction
One of the fifty states which is a member of the federation known as the United States of America. Other US geographic areas, such as Puerto Rico and the District of Columbia, are essentially equivalent to State when used in an address.
_
C30010
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
US State
A tightening of the involuntary smooth muscles of the uterus.
_
C92904
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Contraction
Atrophy or reduction of the size of the uterine corpus.
_
C92909
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Involution
A soft murmur heard in auscultating a pregnant uterus. It is caused by the increased vascularity of pregnancy.
_
C92910
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Uterine Souffle
A congenital abnormality characterized by the complete absence of the uterus.
_
C99103
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Uterine Agenesis
An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure.
_
C99104
NICHD Pediatric Terminology
Neonatal Research Network Terminology
UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency
Preparations containing substances with antigenic properties administered to activate the immune system, thereby inducing an immune response. Vaccines range from inactivated or attenuated microorganisms (bacteria and viruses), enhanced autologous tumor cells, tumor antigens or epitopes that are used to elicit host immune responses. Vaccines are used for the prevention, amelioration, or treatment of infectious diseases and cancer.
_
C923
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Vaccine
The method referring to the delivery of a fetus through the vaginal canal with assistance of a vacuum extractor device.
_
C81300
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vacuum Assisted Vaginal Delivery
The method referring to the use of medical devices such as vacuum extractor or forceps to assist with the delivery of a fetus.
_
C81301
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vaginal Assisted Delivery
The method referring to the delivery of a fetus through the vaginal canal after the mother has had a cesarean delivery with a previous pregnancy.
_
C81302
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vaginal Birth after Cesarean
The natural processes involved in giving birth vaginally.
_
C92912
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vaginal Birth Mechanism
Hemorrhage from the vagina that may range from light spotting to heavy flow during pregnancy.
_
C92913
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vaginal Bleeding during Pregnancy
The method referring to the delivery of a fetus through the vaginal canal.
_
C81303
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vaginal Delivery
A medical contraceptive device of soft flexible material, usually of thin rubber, that is designed to cover the cervix uteri prior to sexual intercourse to prevent the entry of spermatozoa. To enhance efficacy, a spermicidal agent is often placed within the device. Antimicrobial agent(s) can also be used to prevent sexually transmitted diseases. Efficacy of vaginal diaphragm against infections is very limited.
A contraceptive device made of soft flexible material, usually of thin rubber, that is designed to cover the cervix uteri prior to sexual intercourse to prevent the entry of spermatozoa.
C42767
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vaginal Diaphragm
A ring composed of active and/or inert ingredient(s), intended for administration in or around the vagina.
A contraceptive device in the shape of a ring composed of active and/or inert ingredient(s), intended for administration in or around the vagina, to prevent conception.
C91199
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vaginal Ring Dosage Form
Paralysis of the recurrent laryngeal nerve. Causes include surgical and non-surgical traumas, neoplasms (e.g., lung carcinoma), and inflammatory neuritis.
_
C78592
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Recurrent Laryngeal Nerve Paralysis
A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities.
_
C74986
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Van der Woude Syndrome
An irregular decrease in the fetal heart rate after the peak of an uterine contraction.
_
C92914
Finding_of_Variable_Deceleration
NICHD Pregnancy and Childbirth Terminology
Neonatal Research Network Terminology
Variable Fetal Heart Rate Deceleration
A live attenuated virus vaccine used to prevent chickenpox and shingles, which is caused by varicella-zoster virus (VZV).
_
C96395
Chickenpox Vaccine; Shingles Vaccine
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Varicella Vaccine
An icosahedral, enveloped virus containing a single molecule of linear double-stranded DNA of 125000 nucleotides that infects only humans. It is the causative agent of chickenpox and shingles.
_
C71091
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Human Herpesvirus 3
A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles (herpes zoster) or chicken pox.
_
C96407
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Varicella Zoster Infection
A serious condition in which blood vessels of the umbilical cord or the placenta cross the entrance to the birth canal, beneath the fetus; this can lead to rapid fetal blood loss during labor and delivery if the blood vessels tear as the cervix dilates and the membranes rupture.
_
C87127
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vasa Previa
An unusual congenital abnormality in which the aorta or aortic branches encircle the trachea and esophagus. Signs and symptoms include difficulty swallowing and eating, persistent cough, noisy breathing, and acid reflex.
_
C99106
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vascular Ring
Surgical removal of part or all of the vas deferens.
_
C15348
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vasectomy
An arteriovenous malformation in the vein of Galen that is located at the base of the brain. The malformation may result in developmental delays, hydrocephalus, seizures, and congestive heart failure.
_
C98642
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vein of Galen Malformation
A finding indicating narrowing of a vein in one or multiple areas.
_
C98643
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Venous Stenosis
The formation of a blood clot (thrombus) in the lumen of a vein.
_
C99107
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Venous Thrombosis
An electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
_
C26924
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ventricular Arrhythmia
An arrhythmia characterized by rapid, usually more than 300 bpm (cycle length: 180 ms or less), grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude.
_
C50799
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ventricular Fibrillation
The presence of a defect (opening) in the septum that separates the two ventricles of the heart. The VSD can be congenital or acquired.
_
C84506
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ventricular Septal Defect
An arrhythmia characterized by 3 or more consecutive complexes in duration emanating from the ventricles at a rate of greater than 100 bpm (cycle length: less than 600 ms).
_
C50802
Pediatric Non-Congenital Ventricular Tachycardia
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Ventricular Tachycardia
A medical device that is a combination of ruler and caliper that can measure the distance between two points. The configuration of this device permits the measurement of internal dimensions.
An instrument for measuring external or internal dimensions. It consists of an L-shaped frame with a linear scale along its longer arm and an L-shaped sliding attachment with a vernier, used to read directly the dimension of an object represented by the separation between the inner or outer edges of the two shorter arms.
C81184
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Vernier Caliper
A white cheese-like protective material that covers the skin of a fetus.
_
C34328
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vernix Caseosa
An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities.
_
C99105
NICHD Pediatric Terminology
Neonatal Research Network Terminology
VACTERL Association
A series of bones, muscles, tendons, and other tissues reaching from the base of the skull to the tailbone. The vertebral column forms the axis of the skeleton and encloses as well as protects the spinal cord and the fluid surrounding the spinal cord.
_
C12998
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Vertebral Column
A fetal position during delivery in which the head of the fetus is flexed and it is first to descend into the birth canal.
_
C92917
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Vertex Presentation
An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis.
_
C98647
VLCAD; Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency
Abnormal flow of urine from the urinary bladder back into the ureters.
_
C84467
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vesicoureteral Reflux
A live attenuated injectable virus vaccine used to prevent typhoid, which is caused by Salmonella typhi.
_
C97127
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Vi Capsular Polysaccharide Typhoid Vaccine
Any disease caused by a virus.
_
C3439
Viral Infection
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Viral Infection
An infectious agent which consists of two parts, genetic material and a protein coat. These organisms lack independent metabolism, and they must infect the cells of other types of organisms to reproduce. Most viruses are capable of passing through fine filters that retain bacteria, and are not visible through a light microscope.
_
C14283
NICHD Pediatric Terminology
Virus
Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from eye diseases, optic nerve diseases, visual pathway diseases, occipital lobe diseases, ocular motility disorders' and other conditions.
_
C35126
Visual_System_Disorder; Disorder of Visual System
NICHD Neurological Development Terminology
Neonatal Research Network Terminology
Vision Disorder
A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information.
_
C35275
Cortical Visual Impairment
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Visual Cortex Disorder
A character or string that represents the vital signs examination.
_
C49672
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Vital Signs
Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.
_
C85221
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vitamin B6 Deficiency
A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.
_
C35772
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vitamin Deficiency Disorder
The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins.
_
C943
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Vitamin K
Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.
_
C99108
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vitamin K Deficiency
Paralysis of the muscles of one or both vocal cords. Signs and symptoms include hoarseness, weak voice, dyspnea, and coughing. Affected individuals are at risk for aspiration pneumonia.
_
C47814
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Vocal Cord Paralysis
Change in the sound and/or speed of the voice. Causes include laryngeal polyp, laryngitis, laryngeal carcinoma, throat carcinoma, Parkinson's disease, multiple sclerosis, stroke, hypothyroidism, oral surgery, tracheostomy, tracheal injury, and laryngeal injury.
_
C61043
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Voice Alteration
The reflex act of ejecting the contents of the stomach through the mouth.
_
C3442
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Vomiting
Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.
_
C68677
NICHD Pediatric Terminology
Neonatal Research Network Terminology
von Willebrand Disease
A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.
_
C85222
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Waardenburg Syndrome
A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.
_
C99109
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Walker-Warburg Syndrome
An electrocardiographic finding of an impulse origination site other than the sino-atrial node. Variations within P waves and PR intervals occur and an irregular rate of impulse formation is observed.
_
C62240
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Wandering Atrial Pacemaker
Frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent.
_
C87128
Liquid_Stool
NICHD Newborn Screening Terminology
Neonatal Research Network Terminology
Watery Stool
Shallow inhalations and exhalations that indicate respiratory distress.
_
C87129
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Weak Breathing
An increase in overall body mass.
_
C62754
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Weight Gain
The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia.
_
C98670
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Werdnig-Hoffmann Disease
A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema.
_
C78718
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Wheezing
A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.
_
C85232
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Williams Syndrome
A birth control method adopted during sexual intercourse by withdrawing the penis from the vagina before ejaculation.
_
C92919
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Withdrawal Contraception
A congenital electrical function abnormality in the heart. It is characterized by the presence of an accessory conductive pathway between the atria and the ventricles which causes the activation of the ventricles earlier than anticipated. Characteristic electrocardiographic findings are a short PR interval and a wide QRS complex with a delta wave.
_
C35132
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Wolff-Parkinson-White Syndrome
A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.
_
C61271
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Wolman Disease
An involuntary deep inhalation with the mouth open, often a sign of drowsiness or boredom.
_
C87131
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Yawning
A live, attenuated viral vaccine to prevent yellow fever, endemic to parts of Africa and South America.
_
C96396
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Yellow Fever Vaccine
A viral infection caused by a flavivirus called yellow fever virus. It is transmitted to humans from infected mosquitoes. The signs and symptoms range from a mild febrile illness to liver damage with jaundice and hemorrhages.
_
C35547
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Yellow Fever Virus Infection
The affirmative response to a question.
_
C49488
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Yes
A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.
_
C85239
NICHD Pediatric Terminology
Neonatal Research Network Terminology
Zellweger Syndrome
Terminology for concepts associated with immunization in children (birth to 21 years of age) contributed by the National Institute of Child Health and Human Development.
C96388
NICHD Pediatric Terminology
NICHD Childhood Immunization Terminology
Terminology for concepts associated with neurological development in children contributed by the National Institute of Child Health and Human Development.
C97150
NICHD Pediatric Terminology
NICHD Neurological Development Terminology
Terminology for concepts associated with neonatal and infant examination contributed by the National Institute of Child Health and Human Development.
C89506
NICHD Pediatric Terminology
NICHD Newborn Screening Terminology
Terminology for concepts associated with Pregnancy, Labor and Delivery contributed by the National Institute of Child Health and Human Development.
C92712
NICHD Pediatric Terminology
NICHD Pregnancy and Childbirth Terminology
Terminology developed to support the efforts of the Neonatal Research Network
Terminology for concepts associated with neonatal research contributed by four neonatal research networks: Vermont-Oxford Network (VON), Children's Hospital of Philadelphia (CHOP), NICHD Neonatal Research Network (NICHD-NRN) and NICHD Pediatric Terminology.
Cxxxxx
NRNT
NICHD Pediatric Terminology
Neonatal_Research_Network_Terminology