C0576704
NECK
65329004
ADHD
C1263846
Anton_syndrome
C0751730
MS
83373005
Anton syndrome, also known as Anton's blindness and visual anosognosia, is a rare symptom of brain damage occurring in the occipital lobe. Those who have it are cortically blind, but affirm, often quite adamantly and in the face of clear evidence of their blindness, that they are capable of seeing.
Argyll_Robertson_pupil
C0234668
CN
4129001
This lesion is a hallmark of tertiary neurosyphillis
Pupils will NOT constrict to light but they WILL constrict with accommodation
Pupils are small at baseline and usually both involved (although degree may be asymmetrical)
Babinski_sign
C0034935
REFLEX
366575004
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Balint_syndrome
C4707368
MS
765212008
A rare neurologic disease with characteristics of the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.
Broca_aphasia
C0003550
MS
229654003
An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions).
Deficit_in_phonologic_short-term_memory
C1847609
MS
Distal_sensory_impairment_of_all_modalities
C1836527
SENSORY
ENT_symptoms
C0422833
SX
267098006
GI_symptoms
C0426576
SX
Gerstmann_syndrome
C0017494
MS
36785009
A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation.
aphasia-angular_gyrus_syndrome
Hoffman_reflex_positive
C0576598
REFLEX
Hoffman_sign_present
C0239962
REFLEX
163873006
The Hoffmann's reflex test itself involves loosely holding the middle finger and flicking the fingernail downward, allowing the middle finger to flick upward reflexively. A positive response is seen when there is flexion and adduction of the thumb on the same hand. A positive Hoffmann’s reflex and finger jerks suggest hypertonia, but can occur in healthy individuals, and are not useful signs in isolation.
Horners_syndrome
C0019937
CN
192915005
syndrome associated with defective sympathetic innervation to one side of the face, including the eye; clinical features include miosis, mild blepharoptosis, and hemifacial anhidrosis (decreased sweating); lesions of the brain stem, cervical spinal cord, first thoracic nerve root, apex of the lung, carotid artery, cavernous sinus, and apex of the orbit may cause this condition.
sympathetic_ophthalmoplegia; sympathetic cervical paralysis; oculosympathetic_palsy
Horners_syndrome_pupil
C0338567
CN
271730003
A small reactive pupil. The miosis is caused by interruption of sympathetic tone.
Impaired_long-term_verbal_memory
C1841624
MS
Laseque_sign
C0575465
SENSORY
298692000
Laseque sign
Lhermitte_sign_present
C0576702
NECK
299950000
Lhermitte's sign (also known as Lhermitte's phenomenon also referred to as the barber chair phenomenon is the name which describes an electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.
barbers_chair_sign; Lhermittes_phenomenom
Microphthalmos
C0026010
CN
204108000
Parinaud_syndrome
C0152222
CN
37991008
A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.
Phalen_sign
C0277835
SENSORY
Rinne_test_negative
C0423549
CN
370377000
Bone conduction better than air conduction.
Rinne_test_positive
C0423548
CN
370378005
Air conduction better than bone conduction.
Normal Rinne test.
Romberg_sign_positive
C0240914
Romberg_sign_present
C0278127
BALANCE
373676004
Romberg_test_positive
C0853374
BALANCE
163770001
The Romberg test is positive if the patient begins to sway when standing erect with eyes closed. In general, patients with cerebellar problems will not be able to stand with feet together even with eyes open. Swaying that begins when the patient closes their eyes suggests a problem with proprioception in the lower extremities.
Romberg sign present
Tinel_sign
C0277843
SENSORY
Weber_test_lateralizes_left
C0521004
CN
27472009
Weber_test_lateralizes_right
C0521003
31732001
Wernicke_aphasia
C1510456
MS
69206000
Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere.
abdominal_pain
C0000737
SX
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen
abdominal_reflex_absent
C0558753
REFLEX
274606006
Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.
abdominal_reflex_reduced
C0576601
REFLEX
299852009
abducens_nerve_palsy
C0271355
CN
abnormal_affect
C1291710
MS
386782008
abnormal_color_vision
C0234629
VIS
23289000
An anomaly in the ability to discriminate between or recognize colors.
abnormal_involuntary_movement
C0392702
SX
abnormal_vestibulo_ocular_reflex
C4021571
abnormal_vision
C3665386
SX
7973008
Disturbance of eyesight
absence_facial_sweating
C0239528
CN
absence_seizure
C0014553
SX
absent_ankle_reflex
C0558845
REFLEX
274818004
absent_biceps_reflex
C0558847
REFLEX
274820001
absent_body_position_sense
C0426959
absent_consensual_light_reflex
C0437606
164042004
absent_deep_tendon_reflexes
C0241772
REFLEX
absent_direct_light_reflex
C0578618
CN
301944006
An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.
absent_knee_reflex
C0558844
REFLEX
274817009
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
absent_left_corneal_reflex
C0558840
absent_pupil_near_reaction
C0578621
CN
301947004
absent_reflexes
C0234146
REFLEX
37280007
A finding indicating the complete absence of neurological reflexes
absent_right_corneal_reflex
C0558841
absent_sensation
C0278134
SENSORY
absent_supinator_reflex
C0558752
REFLEX
274605005
absent_radial_reflex; absent_brachioradialis_reflex
absent_tendon_reflex
C0278124
REFLEX
349006
absent_triceps_reflex
C0558846
REFLEX
abulia
C0919974
MS
737585009
Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.
acquired_color_vision_deficiency
C0155018
CN
action_tremor
C0234376
EP
30721006
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
intention_tremor; cerebellar_tremor
afferent_pupil_defect
C0549122
CN
232122003
The pupil responds consensually but not directly to light--so-called positive swinging flashlight test suggesting an afferent defect in the diseased eye.
Marcus_Gunn_pupil; positive_swinging_flashlight_test
afferent_pupillary_defect
C0339662
CN
232121005
ageusia
C2364111
CN
36955009
aggressive
C0001807
61372001
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
aggression; aggressive
aggressive_outbursts
C0554985
192083006
agitated
C0085631
MS
24199005
A condition in which a person is unable to relax and be still. The person may be very tense and irritable, and become easily annoyed by small things. He or she may be eager to have an argument, and be unwilling to work with caregivers to make the situation better.
agnosia
C0001816
MS
42341009
Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.
agraphesthesia
C1328618
MS
The inability to recognize letters or numbers traced on the palm of the hand despite adequate sensation.
agraphia
C0001825
MS
27206009
akathisia
C0392156
EP
285145004
A disorder characterized by an uncomfortable feeling of inner restlessness and inability to stay still; this is a side effect of some psychotropic drugs.
motor_restlessness
akinetic_mutism
C0001889
MS
53333005
A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities.
coma_vigil
alexia
C0002018
MS
9236007
An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.
dyslexia
allodynia
C0458247
SENSORY
247404004
Allodynia is the elicitation of pain by stimuli that are normally not painful.
painful_response_to_non_painful_stimulus
altered_consciousness
C0150450
SX
altitudinal_hemianopia
C0271205
VIS
246669008
altitudinal_scotoma
C0422991
VIS
246662004
amaurosis_fugax
C0149793
SX
88032003
A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition
amenorrhea
C0002453
SX
absence of menses for three months or more.
amnesia
C0002622
MS
48167000
Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.
memory_loss
amusia
C0234497
MS
26610007
anal_reflex_absent
C0576612
REFLEX
299863007
anal_reflex_reduced
C0751471
REFLEX
299865000
anarthria
C0234517
MS
48257004
Pure anarthria is a rare disorder commonly defined as a total inability to articulate speech in the absence of any deficit both of auditory comprehension and of written language. It can follow either cortical, subcortical, or brain stem lesions. Anarthria should be kept separate from mutism (inability or unwillingness to speak in the absence of any brain lesion capable of affect the articulatory planning), as well as from dysarthria (a speech disorder due to weakness or incoordination of speech muscles).
anisocoria
C0003079
CN
13045009
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
unequal_pupils
ankle_clonus
C0238651
REFLEX
39055007
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
anomia
C0003113
MS
10325006
A language dysfunction characterized by the inability to name people and objects that are correctly perceived.
anomic_aphasia
C2228041
MS
10325006
anorexia
C0003123
SX
79890006
clinical manifestation consisting of a physiopathological lack or loss of appetite accompanied by an aversion to food and the inability to eat.
anosmia
C0003126
CN
44169009
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
loss_of_smell
anosognosia
C0234507
MS
20930002
A condition in which a person who suffers illness or disability seems unaware of or denies the existence of the illness or disabilit
Denial_of_illness
antalgic_gait
C0231685
GAIT
67141003
apathy
C0085632
MS
20602000
Lack of emotion or emotional expression; a disorder of motivation that persists over time.
listless
aphasia
C0003537
MS
87486003
Cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form; caused by diseases which affect the language areas of the dominant hemisphere; general categories include receptive, expressive, and mixed forms of aphasia
dysphasia
aphasia_apraxia_dyslexia_or_agnosia
C1291740
MS
106169008
appendicular_ataxia
C0750937
COOR
Ataxia that affects primarily the limbs and can be elicited by the finger-to-nose test or heel-knee-shin test or rapid alternating movements.
limb_ataxia
apraxia
C0003635
MS
68345001
loss of ability to perform familiar, purposeful movements in the absence of paralysis or other neural sensorimotor impairment.
areflexia
C4228025
REFLEX
37280007
areflexia_of_lower_limbs
C1856694
REFLEX
areflexia_of_upper_limbs
C2674177
REFLEX
arm_pain
C0239377
SX
arms_not_swung_while_walking
C0424233
EP
arthralgia
C0003862
SX
astasia_abasia
C0004090
MS
71802006
astereognosis
C2830446
MS
25094008
asterixis
C0232766
EP
32838008
A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.
flapping_tremor; liver_flap
asymmetric_smile
C3842129
CN
ataxia
C0004134
COOR
20262006
Ataxia is the presence of uncoordinated, imprecise, and inaccurate movements. Ataxia is the cardinal sign of cerebellar disease.
dyssynergia; dystaxia
ataxic_dysarthria
C0454599
MS
229687004
cerebellar_dysarthria
ataxic_gait
C0751837
GAIT
25136009
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
ataxic_nystagmus
C0585568
307700006
CN
athetosis
C0004158
EP
58593005
A movement disorder consisting of slow, involuntary, and nonpurposeful writhing movements that usually affect the upper limbs.
atrophy_of_intrinsic_foot_muscles
C1864717
ATROPHY
atrophy_of_the_small_muscles_in_the_hand
C3808485
attention_problems
C4522293
MS
auditory_hallucinations
C0233762
SX
45150006
Perception of sound in the absence of a corresponding stimulus.
auditory_inattention
C0750942
MS
aura
D0000009
aura_abdominal_sensation
D0000001
aura_anxiety
D0000328
aura_auditory
D0000003
aura_auditory_hallucinations
D0000347
aura_auditory_illusions
D0000346
aura_autonomic_sensations
D0000004
aura_autopscopy
D0000340
aura_complex_visual_formed_hallucination
D0000005
aura_deja_vu
D0000301
aura_depersonalization_derealization
D0000341
aura_dysphoria
D0000344
aura_euphoria
D0000345
aura_face_flushing
D0000007
aura_fear
D0000302
aura_genital_sexual
D0000343
aura_jamais_vu
D0000303
aura_music
D0000011
aura_nausea
D0000012
aura_noises
D0000013
aura_numbness
D0000014
aura_panic
D0000304
aura_paresthesias
D0000016
aura_psychic_sensations
D0000017
aura_restlessness
D0000305
aura_self_image_distortions
D0000339
aura_simple_visual
D0000019
aura_smell_uncinate
D0000020
AURA
aura_somatosensory
D0000021
AURA
aura_taste_gustatory
D0000022
aura_time_disortions
D0000342
aura_visual
D0000023
aura_visual_hallucinations
D0000349
aura_visual_illusions
D0000348
aura_voices
D0000024
autistic_features
C1846135
MS
automatisms
C0004377
SX
52669001
Automatic, mechanical, and apparently undirected behavior which is outside of conscious control.
autotopagnosia
C0234511
MS
24500009
body_image_agnosia
backache
C0004604
SX
balance_finding
C0575082
BALANCE
298304004
behavioral_symptoms
C0004941
SX
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
bilateral_carotid_bruit
C0694544
NECK
bilateral_extensor_plantar_responses
C0422917
REFLEX
246588005
bilateral_fixed_and_dilated_pupils
C0574118
CN
bilateral_foot_drop
C3807697
WEAK
15638171000119103
bilateral_hand_weakness
C2196583
bilateral_hearing_loss
C0018775
CN
95820000
bilateral_hemianopia
C4036173
VIS
bilateral_neural_hearing_loss
C2315695
430977001
bilateral_papilledema
C2033345
15930381000119104
bilateral_ptosis
C1865916
CN
bilateral_rigidity
C2196964
MOTOR
bilateral_sensori_neural_hearing_loss
C0452138
bilateral_sixth_nerve_palsy
C2881291
CN
binasal_hemianopia
C0271208
VIS
87278000
bipolar
C0005586
MS
bitemporal_hemianopia
C0221184
VIS
61917005
blepharospasm
C2930898
MOTOR
59026006
blind_one_eye
C0271240
VIS
22950006
unilateral_blindness
blindness
C0456909
VIS
193699007
Inability to see or the loss or absence of perception of visual stimuli; condition may be the result of eye, optic nerve, optic chiasm or brain diseases effecting the visual pathways or occipital lobe.
blindness_both_eyes
C1879328
blink_reflex_absent
C0576562
CN
299813002
blunted_affect
C1860473
blurred_disc_margin
C0278232
72436007
blurred_vision
C0344232
SX
246636008
A disorder characterized by visual perception of unclear or fuzzy images.
bradykinesia
C0233565
EP
399317006
Abnormal slowness of movement, which is often a symptom of neurological disorders, particularly Parkinson's disease.
brisk_ankle_reflex
C0576629
REFLEX
299880006
brisk_biceps_reflex
C0576582
REFLEX
299833003
brisk_finger_jerk
C0576595
REFLEX
299846008
brisk_jaw_jerk
C0576553
REFLEX
299805003
To elicit the jaw jerk, the examiner places an index finger over the jaw or chin, holding the mouth partly open, then gently taps the examiner's finger with the reflex hammer. The the brisk jaw jerk may indicate a state of generalized hyperreflexia due to a supranuclear lesion such as stroke or ALS.
brisk_knee_reflex
C0576623
REFLEX
299874003
brisk_knee_reflexes
C1854027
REFLEX
brisk_reflexes
C2673700
REFLEX
Tendon reflexes that are noticably more active than usual (conventionally denoted 3+ on clinical examnation). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
brisk_supinator_reflex
C0576588
REFLEX
299839004
brisk radial reflex; brisk brachioradialis reflex
brisk_tendon_reflex
C0522227
102983008
REFLEX
brisk_triceps_reflex
C0576576
299827007
REFLEX
bulbocavernosus_reflex_negative
C0576619
REFLEX
299870007
burning_pain
C0234230
SX
A sensation of intensley hot or searing discomfort.
burning_sensation_in_eye
C0234655
SX
2070002
buttock_pain
C0231710
SX
calf_muscle_hypertrophy
C1843057
MOTOR
cannot_shrug_shoulder
C0427049
CN
249928002
Shoulder shrug is generally considered an action of the trapezius muscle, although the levator scapulae contributes to this action.
cardiovascular_symptoms
C0476270
SX
carotid_bruit
C0007280
NECK
419642000
A carotid bruit is a vascular murmur sound (bruit) heard over the carotid artery area on auscultation during systole.
cataplexy
C0007384
SX
transient attack of weakness precipitated by emotional excitement; patient falls as if struck down.
catatonia
C0007398
MOTOR
247917007
A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations.
central_hypotonia
C1842364
MOTOR
Reduced muscle tone secondary to an abnormality of the central nervous system
central_scotoma
C0152191
VIS
38950008
An area of depressed vision located at the point of fixation and that interferes with central vision.
centrocecal_scotoma
C0271196
VIS
33014001
A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.
cerebellar_ataxia
C0007758
COOR
85102008
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
cerebral_hemorrhage
D0000847
cerebral_infarction
D0000835
cerebrovascular_disease
D0000842
cervical_root_injury
C0161442
SENSORY
choking
C0008301
SX
chorea
C0008489
EP
271700006
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
choreic_gait
C0427162
GAIT
250040002
choreoathetosis
C0085583
MOTOR
43105007
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
ciliospinal_reflex_absent
C0558750
CN
274603003
The ciliospinal reflex (pupillary-skin reflex) consists of dilation of the ipsilateral pupil in response to pain applied to the neck, face, and upper trunk. If the right side of the neck is subjected to a painful stimulus, the right pupil dilates (increases in size 1-2mm from baseline). This reflex is absent in Horner's syndrome and lesions involving the cervical sympathetic fibers. The enhanced ciliospinal reflex in asymptomatic patients with cluster headache is due to preganglionic sympathetic mechanisms.
clasp_knife_spasticity
C0277820
MOTOR
2581006
clonus
C0009024
REFLEX
36649002
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
clouded_consciousness
C0683369
MS
40917007
clumsiness
C0233844
SX
Movements that are imprecise or inaccurate.
clumsy
clumsy_gait
C1842201
cognitive_impairment
C0338656
SX
386806002
Diminished or impaired mental and/or intellectual function
cognitive_symptoms
C1392787
SX
Symptoms related to cognitive behavior such as language, memory, reasoning, abstract thought, and visual spatial manipulations.
cogwheel_rigidity
C0151564
MOTOR
55630000
A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).
collapse
C0344329
271787007
collapsed
C0392748
SX
color_blindness
C0152200
CN
56852002
Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
achromatopsia
coma
C0009421
MS
371632003
A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem reticular formation.
comatose
complete_deafness
C0018784
complete_hearing_loss
C0581883
complex_partial_seizure
C0149958
SX
4103001
A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary.
comprehension_dysprosody
C0233744
MS
112089001
An inability to comprehend emotion as conveyed by the prosody of speech.
concentric_visual_field_loss
C4478437
conduction_aphasia
C0234471
MS
89410007
A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca's and Wernicke's areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication.
confabulation
C0233800
MS
17842005
Giving untruthful answers to questions about situations or events that are not recalled due to loss of memory. Confabulation is not a conscious attempt to deceive.
confusion
C0009676
SX
286933003
A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation
confusional_state; dazed; muddled; clouded_consciousness
consitutitional_symptoms
C0009812
SX
A group of symptoms that affect an individual's general well being. Representative examples include fever, chills, fatigue, weakness, and weight loss.
constipation
C0009806
SX
constricted_visual_field
C0235095
VIS
267628004
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Narrowed or reduced visual field.
reduced_visual_field; narrowed_visual_field
constructional_apraxia
C2243023
MS
76251002
Constructional apraxia is characterized by an inability or difficulty to build, assemble, or draw objects. Apraxia is a neurological disorder in which people are unable to perform tasks or movements even though they understand the task, are willing to complete it, and have the physical ability to perform the movements. Constructional apraxia may be caused by lesions in the parietal lobe following stroke or it may serve as an indicator for Alzheimer's disease.
convergence_retraction_nystagmus
C2939429
CN
373590007
conversion_disorder
C0009946
MS
20734000
hysteria
coordination_finding
C0575091
COOR
298314008
Coordination is the ability to perform complex movements precisely and accurately.
coprolalia
C0233729
MS
Involuntary and repetitive utterances of obscene or socially inappropriate words or statements.
corneal_reflex_absent
C0278211
78710008
The corneal reflex is elicited by touching the cornea with a wisp of cotton or tissue. The afferent loop is ove V1 of the trigeminal nerve and the efferent loop is over the facial nerve.
cortical_blindness
C0155320
VIS
68574006
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
cough
C0010200
SX
cranial_nerve_11_finding
C0152180
CN
84759007
The major part of the spinal accessory nerve (11th cranial nerve) innervates the trapezius muscle and the sternocleidomastoid muscle. Weakness of these muscles maybe supranuclear, nuclear, or infranuclear in origin. A special visceral efferent branch to the vagus nerve is not tested clinically.
Acessory_nerve_disorder
cranial_nerve_12_finding
C0234338
CN
106162004
The twelfth cranial nerve is purely motor and supplies the tongue.
twelfth_cranial_nerve_finding; hypoglossal_nerve_finding
cranial_nerve_1_finding
C0751937
CN
68982002
Diseases of the first cranial (olfactory) nerve, which usually feature anosmia or other alterations in the sense of smell and taste.
olfactory_nerve_disorder; first_cranial_nerve_finding; cranial_nerve_I_finding
cranial_nerve_2_3_4_6_vision_disorder
C0042790
CN
128127008
visual_system_disorder
cranial_nerve_5_finding
C0234274
CN
106155008
trigeminal_nerve_finding
cranial_nerve_7_finding
C0234289
CN
106157000
Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.
facial_nerve_finding
cranial_nerve_8_finding
C0001163
CN
77949003
Pathological processes of the vestibulocochlear nerve, including the branches of cochlear and vestibular nerve. Common examples are vestibular neuritis, cochlear neuritis, and acoustic neuroma. Clinical signs are varying degree of hearing loss, vertigo, and tinnitus.
acoustico-vestibular_nerve_disorders
cranial_nerve_9_10_finding
C0234324
CN
106160007
vagal_nerve_finding
cranial_nerve_finding
C1291734
CN
106150003
Deficits that arise from dysfunction of one of the twelve cranial nerves.
cranial_nerve_reflex_finding
C1287863
CN
366342008
craniocerebral_trauma
C0018674
SX
cremasteric_reflex_negative
C0558754
REFLEX
274607002
cutaneous_reflex_finding
C0278132
REFLEX
29922007
Superficial reflexes are motor responses to scraping of the skin. They are graded simply as present or absent, although markedly asymmetrical responses should be considered abnormal as well. These reflexes are quite different from the muscle stretch reflexes in that the sensory signal has to not only reach the spinal cord, but also must ascend the cord to reach the brain. The motor limb then has to descend the spinal cord to reach the motor neurons. As can be seen from the description, this is a polysynaptic reflex. This can be abolished by severe lower motor neuron damage or destruction of the sensory pathways from the skin that is stimulated. However, the utility of superficial reflexes is that they are decreased or abolished by conditions that interrupt the pathways between the brain and spinal cord (such as with spinal cord damage).
daytime_sleepiness
C0541854
SX
deafness
C0011053
CN
15188001
lack or significant deficiency of the sense of hearing.
decerebrate_posture
C0231474
MOTOR
23073007
decerebration
decorticate_posture
C0231475
MOTOR
85157005
decortication
decreased_ankle_jerk_on_affected_side
C0151303
REFLEX
decreased_ankle_reflex
C0751473
REFLEX
299878000
decreased_Achilles_reflex; decreased_ankle_jerk
decreased_arm_swing
C2938985
EP
decreased_biceps_reflex
C0751475
REFLEX
299831001
decreased_blink_rate
C0238777
EP
decreased_corneal_reflex
C0151572
103254005
An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
decreased_facial_sweating
C4024874
CN
ipsilatera_absence_of_facial_sweating
decreased_gag_reflex
C0751476
CN
5799008
decreased_hand_dexterity
C4313189
decreased_knee_reflex
C0751478
REFLEX
299872004
decreased_patellar_reflex; decreased_knee_jerk, decreased_quadriceps_reflex
decreased_libido
C0011124
SX
decreased_lower_extremity_reflexes
C1834696
REFLEX
decreased_or_absent_proprioception
C4313615
163740006
decreased_pain_and_temperature_of_left_shoulder
C2016557
decreased_pain_and_temperature_of_radial_nerve
C2016481
SENSORY
decreased_pain_and_temperature_radial_arm_thumb_and_index_finger_C6
C2016530
SENSORY
decreased_pain_and_temperature_sensation
C2164410
SENSORY
decreased_pain_and_temperature_sensation_in_distal_extremities_glove_and_stocking
C2016460
SENSORY
decreased_pain_and_temperature_sensation_lower_thigh_L3_dermatome
C2016512
SENSORY
decreased_pain_and_temperature_sensation_of_4-5th_digits__ulnar_aspect_of_hand__and_distal_aspect_of_forearm_C8
C2016445
SENSORY
decreased_pain_and_temperature_sensation_of_arm
C2016464
SENSORY
decreased_pain_and_temperature_sensation_of_axilla_and_upper_subclavian_area_T2
C2016451
SENSORY
decreased_pain_and_temperature_sensation_of_back_of_head_C2_dermatome
C2016455
SENSORY
decreased_pain_and_temperature_sensation_of_buttock_and_perianal_region_S3_S4_S5_dermatomes
C2016456
SENSORY
decreased_pain_and_temperature_sensation_of_buttocks_and_perianal_region_bilaterally_saddle_area
C2016457
SENSORY
decreased_pain_and_temperature_sensation_of_dorsum_of_foot
C2164411
decreased_pain_and_temperature_sensation_of_face
C2016472
CN
decreased_pain_and_temperature_sensation_of_hand
C2016480
decreased_pain_and_temperature_sensation_of_inguinal_region_L1_dermatome
C2016491
SENSORY
decreased_pain_and_temperature_sensation_of_knee_and_medial_leg_L4_dermatome
C2016495
SENSORY
decreased_pain_and_temperature_sensation_of_lateral_leg_and_dorsum_of_foot_L5_dermatome
C2016499
SENSORY
decreased_pain_and_temperature_sensation_of_lateral_upper_thigh
C2016503
decreased_pain_and_temperature_sensation_of_leg
C2016471
SENSORY
decreased_pain_and_temperature_sensation_of_leg_or_foot
C2164412
decreased_pain_and_temperature_sensation_of_medial_thigh_and_knee
C2016508
decreased_pain_and_temperature_sensation_of_median_nerve
C2016482
SENSORY
decreased_pain_and_temperature_sensation_of_neck
C2016518
SENSORY
decreased_pain_and_temperature_sensation_of_outer_upper_arm_C5_dermatome
C2016522
SENSORY
decreased_pain_and_temperature_sensation_of_sole_of_foot
C2016564
decreased_pain_and_temperature_sensation_of_sole_of_foot_and_posterior_leg_S1_dermatome
C2016559
SENSORY
decreased_pain_and_temperature_sensation_of_toe
C2164413
decreased_pain_and_temperature_sensation_of_ulnar_forearm_and_arm_T1
C2016570
SENSORY
decreased_pain_and_temperature_sensation_of_ulnar_nerve
C2016483
SENSORY
decreased_pain_and_temperature_sensation_of_upper_thigh_L2_dermatome
C2016574
SENSORY
decreased_pain_and_temperature_sensation_over_middle_finger_C7
C2016516
SENSORY
decreased_pain_and_temperature_sensation_posterior_thigh_S2
C2016526
SENSORY
decreased_pain_sensation
C1837522
SENSORY
decreased_pain_sensation_in_extremities
C1832123
SENSORY
decreased_proprioception_in_legs
C2678339
decreased_supinator_reflex
C0576586
REFLEX
299837002
decreased_radial-reflex
decreased_tactile_sensation
C2164434
SENSORY
decreased_touch
decreased_tactile_sensation_dorsum_of_foot
C2039796
SENSORY
decreased_tactile_sensation_in_distal_extremities_glove_and_stocking
C2039795
SENSORY
decreased_tactile_sensation_of_arm
C2164435
SENSORY
decreased_touch_on_arm
decreased_tactile_sensation_of_back_of_head_C2_dermatome
C2039775
SENSORY
decreased_tactile_sensation_of_buttock_and_perianal_regions_S3_S4_and_S5_dermatomes
C2039787
SENSORY
decreased_tactile_sensation_of_buttock_and_perianal_regions_bilaterally_saddle_area
C2039788
SENSORY
decreased_tactile_sensation_of_deep_peroneal_nerve
C2039791
SENSORY
decreased_tactile_sensation_of_fourth_and_fifth_digits_ulnar_hand_and_distal_forearm_C8_dermatome
C2039812
SENSORY
decreased_tactile_sensation_of_hand
C2164436
decreased_touch_on_hand
decreased_tactile_sensation_of_inguinal_region_L1_dermatome
C2054039
SENSORY
decreased_tactile_sensation_of_knee_and_medial_leg_L4_dermatome
C2054043
SENSORY
decreased_tactile_sensation_of_lateral_leg_and_dorsum_of_foot_L5_dermatome
C2054045
SENSORY
decreased_tactile_sensation_of_lateral_plantar_nerve
C2728289
SENSORY
decreased_tactile_sensation_of_leg_or_foot
C2164440
SENSORY
decreased_touch_on_leg_or_foot
decreased_tactile_sensation_of_lower_thigh_L3_dermatome
C2054064
SENSORY
decreased_tactile_sensation_of_medial_plantar_nerve
C2728294
SENSORY
decreased_tactile_sensation_of_median_nerve
C2039817
SENSORY
decreased_tactile_sensation_of_middle_finger_only_C7_dermatome
C2054068
SENSORY
decreased_tactile_sensation_of_neck
C2054071
SENSORY
decreased_touch_on_neck
decreased_tactile_sensation_of_outer_upper_arm_C5_dermatome
C2054075
SENSORY
decreased_tactile_sensation_of_posterior_thigh_S2_dermatome
C2054076
SENSORY
decreased_tactile_sensation_of_radial_forearm_thumb_and_index_finger_C6_dermatome
C2054077
SENSORY
decreased_tactile_sensation_of_radial_nerve
C2039816
SENSORY
decreased_tactile_sensation_of_saphenous_nerve_medial_calf
C2728299
SENSORY
decreased_tactile_sensation_of_sole_of_foot
C2164444
SENSORY
decreased_touch_on_sole_of_foot
decreased_tactile_sensation_of_superficial_peroneal_nerve
C2054112
SENSORY
decreased_tactile_sensation_of_sural_nerve
C2054116
SENSORY
decreased_tactile_sensation_of_ulnar_forearm_and_arm_T1_dermatome
C2054120
SENSORY
decreased_tactile_sensation_of_ulnar_nerve
C2039818
SENSORY
decreased_tactile_sensation_of_upper_thigh_L2_dermatome
C2054121
SENSORY
decreased_tendon_reflex
C0700078
REFLEX
405946002
decreased_touch_sensation
C1837521
SENSORY
decreased_triceps_reflex
C0751481
REFLEX
299825004
decreased_upper_extremity_reflexes
C1837373
REFLEX
decreased_vibration_and_proprioceptive_sense
C3277802
SENSORY
decreased_vibratory_sensation_of_arm_or_hand
C2189582
decreased_vibratory_sensation_of_distal_extremities_glove_and_stocking
C2189587
SENSORY
decreased_vibratory_sensation_of_leg_or_foot
C2189590
decreased_vibratory_sense
C1295585
130980003
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
deficient_saccades
C0595983
CN
deficient_smooth_pursuit
C0751609
deja_vu
C0011194
SX
delayed_language
C0023012
MS
delayed_language_acquisition
delayed_puberty
C0034012
SX
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty
delusion
C0011253
MS
2073000
A false belief regarding the self or persons or objects outside the self that persists despite the facts, and is not considered tenable by one's associates.
dementia
C0497327
MS
52448006
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
denervation_atrophy_of_tongue
C1274803
CN
403451002
Atrophy of the tongue is manifested by a loss of bulk on the affected side. With advanced atrophy, the tongue is furrowed, wrinkled, and obviously smaller on the affected side.
depressed
C0344315
developmental_delay
C0424605
developmental_regression
C1836830
SX
609225004
Loss of developmental skills, as manifested by loss of developmental milestones.
deviation_of_uvula
C0426994
CN
249884003
difficulty_arising
C0555088
SX
difficulty getting up
difficulty_chewing
C0239043
SX
An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing
difficulty_climbing_stairs
C0239067
SX
difficulty_in_initiating_movements
C0562455
MS
284511008
A slowness in initiating movements generally suggests a frontal lobe lesion damaging circuits involved in movement initiation.
difficulty_in_speaking
C1527347
SX
difficulty_moving_tongue
C0563385
CN
285501007
difficulty_turning_body
C0555095
EP
249911000
difficulty_walking
C0311394
SX
228158008
Reduced ability to walk (ambulate).
trouble walking
difficulty_writing
C0584995
MS
102938007
diplegia
C0221165
WEAK
6481005
Paralysis affecting corresponding parts on both sides of the body.
bilateral_paralysis
diplegia_of_arms
C4302036
WEAK
723157009
paralysis_of_both_arms; unable_to_move_both_arms
diplopia
C0012569
SX
24982008
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
seeeing_double; double_vision
disinhibited
C0474398
MS
247973004
disorders_of_eyelid
C0015423
CN
60113004
disorganized
C1855263
MS
736319003
disorientation
C0233407
MS
62476001
disoriented
disorientation_to_person_place_and_time
C0278062
MS
39538002
disoriented
C1546414
MS
disoriented_in_time
C0233408
MS
disoriented_to_person
C0455741
MS
62766000
disoriented_to_place
C0233409
MS
72440003
Impaired awareness of place
place_disorientation
disoriented_to_time
C4062229
MS
19657006
dissociative_convulsions
C0349245
MS
191714002
hysterical_seizures
dissociative_tremor
C0349742
191713008
hysterical_tremor
distal_limb_muscle_atrophy_due_to_peripheral_neuropathy_mild
C1850396
ATROPHY
distal_muscle_weakness
C0427065
WEAK
249942005
Reduced strength of the musculature of the distal extremities
distal_muscle_weakness_mild
C1837343
WEAK
distal_sensory_impairment
C1847584
SENSORY
An abnormal reduction in sensation in the distal portions of the extremities.
distal_sensory_loss_of_proprioception_and_vibration_sense
C1834857
SENSORY
distractible
C0233415
MS
28102002
disturbance_of_consciousness
C0234428
3006004
dizziness
C0012833
SX
downbeat_nystagmus
C0585544
CN
307676006
Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
dressing_apraxia
C0234529
MS
179005
Dressing apraxia is a syndrome of the right (incorrectly defined as minor) hemisphere, indicating the incapacity of effectuating the acts of dressing correctly (for example passing the head in the sleeve or dressing trousers at the inverse etc…). However this difficulty should not be explained by a primary motor or sensory deficit or by a general attention failure (as it can be observed in patients with dementia, delirium or with a severe frontal syndrome). Interestingly, several cases reports of patients with pure dressing apraxia have been published, without the evidence of the co-presence of other forms of apraxia or other significant deficits in other cognitive spheres.
droopy_eyelids
C0423131
CN
drop_attacks
C0259813
SX
drowsy
C0013144
MS
271782001
The sensation of struggling to remain awake.
drowsy_on_examination
C0436584
MS
162704004
drusen_of_optic_disc
C0029128
CN
33629003
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
dull_headache
C0239885
SX
dysarthria
C0013362
MS
8011004
imperfect speech articulation due to disturbances of muscular control.
dyscalculia
C0869474
MS
55640002
acalculia
dysconjugate_eye_movements
C1845274
CN
dysconjugate_gaze
C0522335
CN
103263007
dysdiadochokinesis
C0234979
COOR
23133003
Dysdiadochokinesia is the inability to rapidly perform alternating movements such as having a subject pronating and supinating their hands.
dysdiadochokokinesia: impaired_rapid_alternating_movements
dysesthesia
C0392699
SENSORY
279079003
Abnormal sensations with no apparent physical cause that are painful or unpleasant.
dyskinesia
C0013384
EP
9748009
a disease characterized by abnormal involuntary movements of muscles
dysmetria
C0234162
COOR
32566006
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
dysmnesic_seizure
C0422859
SX
dysmorphic_face
C0424503
HEAD
dysphagia
C0011168
CN
40739000
A disorder characterized by difficulty in swallowing.
dysphasia
C0973461
MS
20301004
dysprosody
C0854737
MS
A speech disorder in which the melody and rhythm of speeech fails to correctly convey the intended emotion of the speaker.
dystonia
C0013421
MOTOR
15802004
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
dystonia_1
C4016919
MOTOR
dystonic_disorder
C0393593
EP
15802004
syndrome dominated by involuntary, sustained or spasmodic, patterned, and repetitive muscle contractions; frequently causing twisting, flexing or extending, and squeezing movements or abnormal postures.
dystonic_posture
C0426961
EP
249847000
ear_pain
C0013456
SX
echolalia
C0013528
MS
64712007
The tendency to repeat vocalizations made by another person.
echo_speech
electric_shock_sensations
C0549248
SX
encephalopathy
C0085584
MS
81308009
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
end_position_nystagmus
C0271390
CN
29356006
Nystagmus made apparent by looking to the right or to the left.
gaze_evoked_nystagmus
endocrine_symptoms
C2216346
SX
enlarged_blind_spot
C0152192
VIS
33970004
epiphora
C0152227
SX
418035005
excessive tearing; watery eyes
equivocal_plantar_response
C0422918
REFLEX
246589002
essential_tremor
C0270736
EP
expressive_aphasia
C0917814
MS
229665008
extensor_plantar_response
C3714730
REFLEX
extensor_plantar_response_left
C0576640
REFLEX
299891004
extensor_plantar_response_right
C0576641
REFLEX
299892006
extensor_posture
C1842657
MOTOR
extensor_rigidity
C0239325
MOTOR
extinction
C0015347
MS
71778000
extinction_and_neglect
C3481646
MS
22058002
eye_deviated
C0239427
CN
eye_movement_disorder
C0028850
CN
45030009
pathologic process affecting the voluntary or reflex-controlled movements of the eye.
eye_pain
C0151827
SX
eyelid_ptosis
C0005745
CN
11934000
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
face_pain
C0015468
SX
facial_diplegia
C1836003
CN
bilateral_facial_weakness
facial_dystonia
C1395979
MOTOR
facial_myokimia
C0270871
EP
1070000
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
facial_numbness
C0239511
309557009
Loss of sensation to temperature, pin prick, or touch on the face.
facial_palsy_LMN
C0751142
CN
facial_paralysis
C0015469
CN
280816001
Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
facial_paresis
C0427055
CN
95666008
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
facial_weakness; facial_droop
facial_paresthesia
C0239517
symptoms
95665007
facial_sensation_decreased_V1
C2237377
CN
facial_sensation_decreased_V2
C2237381
CN
facial_sensation_decreased_V3
C2237384
CN
facial_tic
C0338467
MOTOR
230335009
facial_weakness_LMN
C0427057
CN
249933003
Facial weakness due to a lesion of the facial nerve or the facial nerve nucleus. In general, both upper and lower face are equally affected.
facial_weakness_UMN
C0427058
CN
249934009
Facial weakness due to lesion above the facial nerve nucleus. Supranuclear lesions generally cause facial weakness that is worse in the lower face than the upper face due to bilateral supranculear control of the upper face.
falling_down
C0085639
BALANCE
161898004
A sudden movement downward, usually resulting in injury
familial_tremor
C0393615
EP
fasciculation
C0015644
MOTOR
82470000
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
muscle_fasciculation
fasciculation_of_tongue
C0239548
CN
249878001
fatigue
C0015672
SX
84229001
state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli.
fear
C0015726
SX
1402001
Feeling of dread or distress whose cause can be identified
fecal_incontinence
C0015732
SX
festinating_gait
C0231694
GAIT
397776000
festination
fever
C0015967
SX
386661006
Abnormal high body temperature
fine_rapid_hand_tremor
C1860864
EP
fine_tremor
C0234373
EP
42800007
finger-nose_test_abnormal
C0427186
COOR
250063007
finger_agnosia
C0234509
MS
3449007
An inability or difficulty differentiating among the fingers of either hand as well as the hands of others
finger_and_wrist_extensor_weakness
C1866142
WEAK
finger_dysmetria
C1847354
finger_tremor
C0239601
EP
fixed_dilated_pupil
C0522340
CN
103271006
flaccid_dysarthria
C0454597
MS
229685007
lower_motor_neuron_type_dysarthria; bulbar_type_dysarthria
flaccid_hemiplegia_dominant_side
C2875327
flaccid_motor_tone
C0026825
MOTOR
397488002
Lack of normal muscle tone.
flaccidity; flaccid_tone; flaccid_muscle_tone
flaccid_paraplegia
C0452143
192966000
flat_affect
C0233471
MS
932006
flight_of_ideas
C0233657
MS
28810003
Rapid succession of thoughts pertaining to different subjects that are still connected.
flinging_movements_of_legs
C0427094
SX
foot_dorsiflexor_weakness
C1866141
WEAK
foot_drop
C0085684
WEAK
6077001
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
foot_drop_gait
C0427149
GAIT
27253007
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
forgetful
C0542476
55533009
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
freezing_of_gait
C0860515
GAIT
443544006
Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk
gag_reflex_absent
C0234784
5258001
gait_apraxia
C1510417
GAIT
30767006
Impaired ambulation not attributed to sensory impairment or motor weakness. The impairment is thought to be due to disorganization of high level motor programs for walking.
gait_difficulty
C0575081
gait_finding
C0575079
GAIT
298302000
gaze_palsy
C1112261
CN
gegenhalten
C0231519
MOTOR
24033006
paratonia
general_unsteadiness
C0427108
SX
271713000
generalized_hypotonia
C1858120
MOTOR
generalized_muscle_hypertrophy
C2010782
MOTOR
generalized_seizure
C0234533
SX
generalized_weakness
C0746674
WEAK
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
getting_lost
C0424015
SX
247664009
A form of disorientation where the person loses their way and is unable to get to their destination.
glabellar_reflex_abnormal
C1142017
REFLEX
299802000
global_aphasia
C0234469
MS
23011003
total_aphasia
glossopharyngeal_nerve_finding
C0751941
CN
80962007
Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear.
glove_sensory_loss
C0277840
SENSORY
63755003
glove_anesthesia
graphesthesia_impaired
C0576697
MS
299945006
grasp_reflex
C0234175
REFLEX
grasp_reflex_present
C2367679
REFLEX
hallucination
C0018524
SX
7011001
subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real; may be of organic origin, drug induced, or associated with a mental disorder.
hand_grip_myotonia
C2749495
MOTOR
Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
difficulty releasing handgrip
harmful_thoughts
C0438698
MS
162314006
head_finding
C1320354
headache
C0018681
SX
pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions.
hearing_impaired
C1384666
CN
103276001
A general term for the complete or partial loss of the ability to hear from one or both ears.
hearing_loss
C3887873
SX
hearing_loss_left_ear
C0262502
CN
hearing_loss_right_ear
C0262503
CN
heel-shin_test_abnormal
C0427189
COOR
250066004
hemiageusia
C3698014
CN
697992008
hemianopia
C0018979
CN
77674003
Partial or complete loss of vision in one half of the visual field of one or both eyes.
hemiballismus
C0221169
MOTOR
66637005
Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.
hemifacial_anhidrosis
C3888440
CN
A lack of sweating on one side of the face.
hemifacial_spasm
C0278152
EP
13753008
Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders.
hemiparesis
C0018989
WEAK
20022000
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
hemiplegia
C0018991
WEAK
50582007
Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
hemiplegic_gait
C0231696
GAIT
52751000
hemisensory_dysesthesia_or_hyperesthesia
C2039767
SENSORY
hemisensory_loss
C0234216
SENSORY
14686007
hemianesthesia
hemisensory_loss_to_all_modalities
C2030490
SENSORY
hemisensory_loss_to_pain_and_temperature
C2016484
SENSORY
hemisensory_loss_to_touch
C2039819
SENSORY
hemisensory_loss_to_vibration
C2189605
SENSORY
hemisensory_neglect
C0751418
32422007
herpes_simplex_encephalitis
D0000851
heteronymous_hemianopia
C0271207
VIS
344104004
hiccoughs
C0019521
high_pitched_voice
C0241703
CN
51406002
An abnormal increase in the pitch (frequency) of the voice
high_steppage_gait
C3552731
hip_flexor_weakness
C3279725
WEAK
history_of_a_fall
C1561668
SX
hoarseness
C0019825
homocidal_ideation
C0455204
225450009
homonymous_hemianopia
C0271202
VIS
34063005
homonymous_quadrantanopia
C0438977
VIS
193679001
horizontal_diplopia
C0751077
horizontal_gaze_palsy
C0339651
CN
232115006
horizontal_nystagmus
C0271385
CN
81756001
Nystagmus consisting of horizontal to-and-fro eye movements.
hostility
C0020039
79351003
Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.
hyperactive
C0424295
MS
44548000
Hyperactivity means having increased movement, impulsive actions, and a shorter attention span, and being easily distracted.
hyperacusis
C0034880
SX
25289003
Abnormally increased perception of sound.
painful_sensitivity_to_sound; sounds_seem_unnaturally_loud
hyperacusis_left_ear
C2881989
1088941000119107
hyperacusis_right_ear
C2881988
hyperalgesia
C0020429
SENSORY
55406008
excessive sensitivity to painful stimuli.
hyperpathia
hyperexplexia
C0234166
REFLEX
hyperkinesia
C3887506
EP
44548000
Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
hypermetria
C3668822
COOR
450881007
Overshooting the target on rapid-alternating-movements.
hyperreflexia
C0151889
REFLEX
86854008
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
hypertelorism
C0020534
HEAD
hypertonia
C0026826
MOTOR
41581000
abnormal increase in skeletal or smooth muscle tone; skeletal muscle hypertonicity may be associated with pyramidal tract lesions or basal ganglia diseases.
muscle_hypertonia
hypertrophy_of_lower_leg_muscles
C2047656
MOTOR
hypertrophy_of_sternocleidomastoid
C3553931
MOTOR
hypertropia
C0020575
CN
40608009
A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.
hypesthesia
C0020580
SENSORY
Diminished sensation in one or more modality including temperature sense, vibration sense, pain sense, light touch sense, or proprioception.
hypnogoguic_hallucinations
C0233773
SX
hypokinesia
C0086439
EP
255385008
Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
hypokinetic_dysarthria
C2017999
MS
229688009
extrapyradimal_type_dysarthria
hypomanic
C0241934
281257007
A less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual's productivity at work, or social and family relationships.
hypomelanotic_macule
C4024220
SKIN
hypometria
C0234165
COOR
69752006
Undershooting the target on rapid alternating movements.
hypometric_saccades
C0423082
CN
hypophonia
C0521007
MS
34527004
Reduced intensity (volume) of speech.
hyporeflexia
C0151888
REFLEX
22994000
Decreased but not necessarily absent deep tendon reflexes.
hyposmia
C2364082
CN
83156004
Decreased ability to smell.
reduced_sense_of_smell, impaired_sense_of_smell
hypotonia
C0026827
MOTOR
398152000
Diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
muscle_hypotonia
hysterical_blindness
C0221473
MS
88902008
hysterical_blindness
hysterical_gait
C0427177
MS
271707009
hysterical_mutism
C1400338
MS
70066000
conversion_mutism
hysterical_paralysis
C0237766
MS
88984006
hysterical_paresis
ictal_Jacksonian_seizure
D0000092
ictal_abdominal_pain
D0000025
ictal_absence_seizure
D0000026
ictal_aggressiveness
D0000844
ictal_akinetic_seizure
D0000310
ictal_altered_awareness
D0000027
ictal_amnesia
D0000028
ictal_apnea
D0000029
ictal_arm_posturing
D0000030
ictal_arrhythmia
D0000031
ictal_astatic_seizures
D0000311
ictal_asystole
D0000032
ictal_atonic_seizure
D0000033
ictal_atypical_absence
D0000034
ictal_auditory
D0000035
ictal_auditory_hallucinations
D0000036
ictal_automatisms
D0000037
ictal_autonomic
D0000038
ictal_behavioral
D0000039
ictal_behavioral_arrest
D0000040
ictal_bipedal_automatisms
D0000041
ictal_blurred_vision
D0000042
ictal_body_rocking
D0000043
ictal_bradycardia
D0000044
ictal_clonic_activity
D0000045
ictal_clonic_seizure
D0000832
ictal_clouded_consciousness
D0000046
ictal_complex_auditory
D0000047
ictal_complex_partial_seizure
D0000048
ictal_complex_phenomenology
D0000049
ictal_complex_postures
D0000050
ictal_complex_visual
D0000051
ictal_confusion
D0000052
ictal_crying_dacrystic
D0000831
ictal_cyanosis
D0000053
ictal_deja_vu
D0000054
ictal_dialeptic_seizure
D0000312
ictal_dizziness
D0000055
ictal_dream_state
D0000056
ictal_drop_attacks
D0000057
ictal_dysmnesia
D0000058
ictal_dystonic_posturing
D0000327
ictal_eye_blinking
D0000060
ictal_eye_deviation
D0000061
ictal_eye_lid_fluttering
D0000062
ictal_eyes_rolling_back
D0000063
ictal_face_and_head
D0000064
ictal_face_flushing
D0000065
ictal_face_jerks
D0000068
ictal_face_numbness
D0000067
ictal_facial_movements
D0000069
ictal_faintness
D0000070
ictal_falling
D0000071
ictal_fear
D0000072
ictal_febrile_seizure
D0000073
ictal_feeling_strange
D0000074
ictal_fencing_posture
D0000075
ictal_figure_of_4_sign
D0000076
ictal_finding
D0000314
ictal_flexor_spasm
D0000078
ictal_focal_clonic
D0000079
ictal_focal_motor_seizure
D0000080
ictal_focal_seizure
D0000849
ictal_focal_sensory_seizure
D0000081
ictal_generalized_seizure
D0000840
ictal_gyratory_seizure
D0000082
ictal_hallucinations
D0000083
ictal_head_dropping
D0000084
ictal_head_rolling_back
D0000085
ictal_head_turning
D0000086
ictal_hemiplegia
D0000087
ictal_hyper_emotionality
D0000088
ictal_hyperkinetic_motor_signs
D0000089
ictal_hypermotor_seizure
D0000315
ictal_impaired_cognition
D0000330
ictal_infantile_spasms
D0000091
ICTAL
ictal_jamais_vu
D0000326
ictal_laughter_gelastic
D0000094
ictal_limb_thrashing
D0000095
ictal_lip_smacking
D0000096
ictal_loss_of_consciousness
D0000097
ictal_moans_groans_and_unintelligible_speech
D0000099
ictal_motor
D0000100
ictal_motor_automatisms
D0000101
ictal_muscle_twitching
D0000102
ictal_mydriasis
D0000103
ictal_myoclonic_atonic_seizure
D0000104
ictal_myoclonic_jerk
D0000106
ictal_myoclonic_seizure
D0000105
ictal_myoclonic_tonic_seizure
D0000850
ictal_nausea
D0000107
ictal_nightmares
D0000108
ictal_numbness
D0000333
ictal_nystagmus
D0000109
ictal_pallor
D0000110
ictal_picking_at_clothlng
D0000112
ictal_piloerection
D0000113
ictal_posturing
D0000114
ictal_repetitive_speech_palilalia
D0000115
ictal_screams
D0000116
ictal_secondarily_generalized_tonic_clonic_seizure
D0000117
ictal_seizure_type
D0000318
ictal_sensory
D0000332
ictal_simple_auditory
D0000118
ictal_simple_partial
D0000119
ictal_simple_visual
D0000120
ictal_speech
D0000121
ictal_speech_arrest
D0000122
ictal_speech_difficulty
D0000123
ictal_spitting_or_drinking
D0000124
ictal_staring
D0000125
ictal_tachycardia
D0000126
ictal_tingling
D0000334
ictal_tongue_biting
D0000127
ictal_tonic_clonic_seizure
D0000128
ictal_tonic_seizure
D0000129
ictal_typical_absence
D0000845
ictal_unclassified_type
D0000319
ictal_unilateral_tonic_or_clonic_seizure
D0000130
ictal_urinary_incontinence
D0000131
ictal_urinary_urge
D0000132
ictal_verbal_automatisms
D0000133
ictal_versive_seizure
D0000320
ictal_vertigo
D0000135
ictal_visual
D0000136
ictal_visual_hallucinations
D0000137
ictal_visual_obscurations
D0000138
ictal_vocalizations
D0000139
ictal_vomiting
D0000140
ictal_wandering
D0000329
ictal_word_finding_difficulty
D0000142
ideational_apraxia
C0234526
MS
66397001
ideomotor_apraxia
C0234523
MS
229706001
A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres.
impaired_abstract_thinking
C0679467
MS
424100000
impaired_alertness
C2712027
MS
704426000
impaired_attention
C0233414
MS
76039005
impaired_balance
C0575090
BALANCE
impaired_body_position_sense
C0576690
impaired_cognition
C0009241
MS
443265004
Diminished or impaired mental and/or intellectual function.
impaired_concentration
C0235198
MS
60032008
impaired_distal_proprioception
C4021585
SENSORY
A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
impaired_elevation_of_soft_palate
C0426995
CN
249885002
impaired_insight
C0233823
MS
12200008
lack_of_insight; defective_insight
impaired_joint_sense
C0576694
299942009
impaired_judgment
C0233818
MS
162327005
Judgment refers to the patient's capacity to make sound, reasoned and responsible decisions.
lack_of_judgment; loss_of_judgment
impaired_memory
C0233794
MS
386807006
poor_memory; memory_deficit
impaired_swallowing
C4061143
CN
288939007
impaired_vigilance
C0920048
MS
impairment_in_registration
C0561734
MS
283878007
impaired_working_memory; impaired_registration
impairment_of_attention
C0238707
MS
impatient
C0919568
impulsive
C0021125
286756000
inability_to_walk
C0560046
SX
282145008
Incapability to ambulate.
inappropriate_behavior
C0233522
SX
112082005
The definition of inappropriate is someone or something that is not within the bounds of what is considered appropriate or socially acceptable.
inappropriate_jocularity
C0233468
MS
5240007
Using humor and joking inappropriately, usually in the setting of disinhibition due to frontal lobe injury. See also witzelsucht.
inappropriate_laughter_or_crying
C1862946
SX
Uncontrolled episodes of crying or laughing, without apparent motivating stimuli.
inattentive
C0424101
MS
22058002
incoherent_speech
C0700129
SX
284596004
Speech which is non-sensical and difficulty to understand. This term is used and generally and does not have a precise neurological definition to describe rambling non-sensical speech.
incoordination
C0520966
COOR
281016006
increased_head_circumference
C4083076
HEAD
increased_tone_in_lower_limbs
C2674843
injury_of_cervical_spine
C0432666
SX
injury_of_lumbar_spine
C0432668
SX
injury_of_thoracic_spine
C0432667
SX
insomnia
C0917801
SX
interictal_finding
D0000331
internuclear_ophthalmoplegia
C0152134
CN
49823009
An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.
INO
intrinsic_hand_weakness
C4476548
WEAK
weak_intrinsic_hand_muscles
involuntary_movement
C0427086
EP
267078001
irritable
C0022107
55929007
Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience.
ischemic_optic_neuropathy
C0155305
CN
14357004
schemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy.
jamais_vu
C0233803
SX
jaw_jerk_brisk
C3552908
REFLEX
jerky_movements
C0427085
SX
labile_affect
C0233472
MS
88729006
Instability of mood, prone to rapid changes in mood and affect.
lack_of_speech_fluency
C0566627
MS
39423001
lack_of_tears
C0423154
246849001
lack_of_lacrimation, lack_of_tears, absent_lacrimation
lancinating_pain
C0948844
SX
lateral_deviation_of_tongue_on_protrusion
C0426986
CN
249876002
lead_pipe_rigidity
C0277821
MOTOR
75147004
learning_disability
C0751265
left_carotid_bruit
C0694542
NECK
left_equivocal_plantar_response
C0576642
REFLEX
left_facial_droop
C3842072
CN
left_foot_drop
C4280873
WEAK
left_hemiparesis
C0457436
WEAK
278287000
left_hemiplegia
C0457434
278285008
left_homonymous_hemianopia
C0271204
55634009
left_proptosis
C2126062
CN
Bulging forward of the left eye.
left_exophthalmos
left_sided_headache
C2168110
SX
leg_numbness
C0857160
leg_pain
C0023222
SX
legs_ataxic
C0427188
COOR
lethargy
C0023380
MS
214264003
limb_dystonia
C0751093
MOTOR
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
limb_fasciculation
C1854657
MOTOR
Fasciculations affecting the musculature of the arms and legs.
limb_rigidity
C0858572
MOTOR
limb_shaking
C0235081
limb_spasticity
C2678242
MOTOR
limb_weakness
C0587246
WEAK
713514005
limited_eye_movements
C0522328
CN
419326002
literal_paraphasia
C0234490
MS
23869008
locked_in_syndrome
C0023944
38023001
loss_of_control_of_movement
C0427084
SX
249961009
loss_of_equilibrium
C0278126
BALANCE
89419008
A loss of equilibrium is defined by an inability to stand upright.
disequilibrium
loss_of_executive_functions
C4544271
MS
736317001
impaired_executive_functions
loss_of_facial_expression
C1852476
EP
loss_of_initiative
C2364087
MS
276306002
loss_of_pain_and_temperature_sensation
C2749793
SENSORY
loss_of_temperature_sensation
C4021222
SENSORY
low_back_pain
C0024031
SX
lower_extremity_weakness
C0751410
lower_facial_weakness
C0427056
CN
249932008
lower_limb_dystonia
C2677696
lower_limb_hyperreflexia
C1836696
REFLEX
lower_limb_nerve_lesion
C0574718
lower_limb_spasticity
C1271100
MOTOR
394679006
lumbar_root_injury
C0161444
SENSORY
macrocephaly
C0221355
malaise
C0231218
SX
A nonspecific feeling of bodily discomfort, fatigue and/or unease.
manic
C0338831
MS
231494001
A disorder characterized by excitement of psychotic proportions manifested by mental and physical hyperactivity, disorganization of behavior and elevation of mood.
marche_a_petits_pas
C0427169
GAIT
250049001
mask_like_facies
C0424448
EP
103606006
masked_facies: lack_of_facial_expression; poverty_of_facial_expression
memory_lapses
C0557932
SX
225038006
Temporary intermittent failures of memory.
meningism
C0025287
NECK
70784009
Meningism is a set of symptoms similar to those of meningitis but not caused by meningitis. Whereas meningitis is inflammation of the meninges (membranes that cover the central nervous system), meningism is caused by nonmeningitic irritation of the meninges, usually associated with acute febrile illness,especially in children and adolescents
mental_and_psychological_observations
C1562941
MS
416578004
mental_retardation
C0025362
MS
91138005
Subnormal intellectual functioning which originates during the developmental period; multiple potential etiologies, including genetic defects and perinatal insults; intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded; IQ scores between 70 and 79 are in the borderline mentally retarded range and scores below 67 are in the retarded range.
mental_status_finding
C0278061
MS
36456004
mesencephalic_light_near_dissociation
C4546352
CN
762663009
Classical teaching has associated all lesions of the rostral midbrain with bilateral light-near dissociation (LND), defined as attenuation of the pupil light reflex (PLR) with relative sparing of the near response.
metamorphopsia
C0271185
SX
42134006
A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
microcephaly
C0025958
HEAD
micrographia
C0240341
EP
725122008
Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.
migraine_with_aura
C0154723
SX
mild_ataxia
C3278191
COOR
Ataxia that is of mild severity. See definition of ataxia.
mild_dysarhria
C3549475
MS
mild_facial_weakness
C1837243
CN
mild_memory_disturbance
C0423927
MS
192071009
mild_tremor
C3553819
EP
mild_upper_limb_ataxia
C3552145
COOR
miosis
C0026205
CN
63251006
miosis
constricted_pupil; miosis; abnormal_non-physiological_constriction_of_the_pupil
misconduct
C0681394
SX
mixed_aphasia
C0454576
MS
229662006
mixed_dysarthria
C0454598
MS
229686008
combined_flaccid_and_spastic_dysarthria
monoparesis
C0270795
WEAK
79520009
Weakness in a single limb.
monoplegia
C0085622
WEAK
86022000
Complete loss of movement in one limb.
monoplegia_arm
C0154703
WEAK
41764006
monoplegia_leg
C0154702
WEAK
80420005
mood_swings
C0085633
MS
18963009
labile affect
morbid_thoughts
C0555358
162315007
motor_dysprosody
C0233725
MS
20937004
A disorder characterized by the inability to convey emotion by using the prosody of speech.
motor_finding
C1291728
MOTOR
106145009
motor_nervous_system_finding
motor_impersistence
C4073148
MS
The inability to continue a motor activity without repeated verbal cues (e.g. "hold your hands outstretched."
motor_tic
C0751900
MOTOR
movement_disorder
C0026650
EP
60342002
Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.
muscle_atrophy
C0026846
ATROPHY
88092000
A process, occurring in the muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse.
amyotrophy; muscle_wasting
muscle_atrophy_arm
C2230425
ATROPHY
muscle_atrophy_deltoid
C2230451
ATROPHY
719191003
muscle_atrophy_distal_leg
C3280173
ATROPHY
muscle_atrophy_distal_upper_Limb
C4021581
ATROPHY
muscle_atrophy_foot
C0239647
ATROPHY
muscle_atrophy_hand
C0239830
ATROPHY
Muscular atrophy involving the muscles of the hand.
muscle_atrophy_hip_girdle
C3278931
ATROPHY
muscle_atrophy_in_distal_forearm_and_hands
C4014002
ATROPHY
muscle_atrophy_interosseous_muscles_of_hand
C2230377
719188003
muscle_atrophy_intrinsic_hand_muscle
C1864716
muscle_atrophy_lower_limb
C4024921
ATROPHY
lower_limb_amyotrophy
muscle_atrophy_primarily_in_legs
C4013951
ATROPHY
muscle_atrophy_proximal_leg
C1836767
ATROPHY
Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
muscle_atrophy_shoulder
C2230450
ATROPHY
muscle_atrophy_shoulder_girdle
C1847766
ATROPHY
muscle_cramps
C0026821
SX
muscle_fatigue
C0242979
FATIGUE
80449002
An abnormal, increased fatiguability of the musculature.
fatiguability: muscle_tire_easily
muscle_hypertrophy
C0236033
MOTOR
249829006
general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.
muscle_rigidity
C0026837
MOTOR
16046003
motor impairment whereby the hypertonic state is charcterized by bidirectional increased resistance to passive movement.
muscle_twitching
C0231530
SX
muscle_weakness_lower_limb
C1836296
WEAK
310611000009107
muscle_weakness_proximal_limb_muscle_mild_to_moderate
C3149744
WEAK
mutism
C0026884
MS
88052002
The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental diseases.
myalgia
C0231528
SX
muscle pain
mydriasis
C0026961
CN
37125009
Abnormal dilatation of the iris.
dilated_pupil
myedema
C0456703
MOTOR
277374006
A localized contraction of a degenerating muscle, occurring at the point of a sharp blow, independent of the nerve supply. Sometimes a small bump occurs on a muscle at the site of a percussion blow. Myoedema may also occur in uremia and myxedema.
myoedema
myoclonus
C0027066
EP
17450006
A rapid, involuntary jerk of a muscle or group of muscles.
A sudden, brief, strong contraction of a muscle or group of muscles that cannot be controlled.
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.
myoclonic jerks
myokimia
C0684219
EP
27678003
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Myokymia is characterized by spontaneous, fine fascicular contractions of muscle without muscular atrophy or weakness. Eyelid myokymia results from fascicular contractions of the orbicularis oculi muscle. Eyelid myokymia is typically unilateral, with the most common involvement being one of the lower eyelids. When multiple eyelids are involved, the fascicular contractions of each eyelid are independent of each other.
In most cases, eyelid myokymia is benign, self-limited, and not associated with any disease. Intervention is usually unnecessary. Rarely, eyelid myokymia may occur as a precursor of hemifacial spasm, blepharospasm, Meige syndrome, spastic-paretic facial contracture, and multiple sclerosis.
myopathic_gait
C0547001
GAIT
250020009
Myopathic gait exaggerated alternation of lateral trunk movements with an exaggerated elevation of the hip
myotonia
C0027125
MOTOR
3434004
Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia occurs in some myopathies such as myotonia congenita, paramyotonia, certain channelopathies, and some forms of musuclar paralysis related to potassium metabolism.
narcolepsy
C0027404
SX
recurrent, uncontrollable brief episodes of sleep and lapses in consciousness, often associated with hypnagogic hallucinations, cataplexy, automatic behaviors and sleep paralysis
nasal_congestion
C0027424
SX
nausea
C0027497
neck_finding
C0575155
NECK
298378000
neck_pain
C0007859
SX
neck_pain_radiating_to_arm
C2219659
SX
neck_stiffness
C0151315
NECK
161882006
A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side
neglect_of_one_side_of_the_body
C0422887
MS
246564008
hemi-inattention; sensory_inattention
neologism
C0233647
MS
54501006
neuromuscular_symptoms
C0752252
SX
nightmares
C0028084
SX
nuchal_rigidity
C1320474
NECK
405947006
Nuchal rigidity is the inability to flex the neck forward due to rigidity of the neck muscles; if flexion of the neck is painful but full range of motion is present, nuchal rigidity is absent.
numbness
C0028643
numbness_of_both_feet
C2219797
SX
numbness_of_hand
C0239832
numbness_of_lower_limb
C0587055
numbness_of_skin
C0522057
102603008
numbness_on_left_face
C2219999
CN
numbness_on_right_face
C2219998
CN
nystagmus
C0028738
CN
563001
involuntary, rapid, rhythmic movement of the eyeball
nystagmus_on_lateral_gaze
C4013199
CN
obscene_thoughts
C0424002
247651008
ocular_apraxia
C4693319
MS
193662007
Oculomotor apraxia (OMA), is the absence or defect of controlled, voluntary, and purposeful eye movement. It was first described in 1952 by the American ophthalmologist David Glendenning Cogan. People with this condition have difficulty moving their eyes horizontally and moving them quickly. The main difficulty is in saccade initiation, but there is also impaired cancellation of the vestibulo-ocular reflex. Patients have to turn their head in order to compensate for the lack of eye movement initiation in order to follow an object or see objects in their peripheral vision, but they often exceed their target. There is controversy regarding whether OMA should be considered an apraxia, since apraxia is the inability to perform a learned or skilled motor action to command, and saccade initiation is neither a learned nor a skilled action.
oculomotor_apraxia
ocular_bobbing
C0234651
CN
46794001
Ocular bobbing is a distinctive eye movement disorder seen in patients with pontine dysfunction. The typical phenomenon consists of abrupt, spontaneous downward jerks of the eyes with a slow return to the midposition in association with paralysis of spontaneous and reflex horizontal eye movements.
ocular_flutter
C0234650
CN
33466002
When these back to back saccades occur purely horizontally, they are known as “ocular flutter” and can be a stage of resolving opsoclonus.
olfactory_disorder
C0679441
CN
362967002
olfactory_hallucination
C0233765
SX
39672001
Perception of a smell in the absence of a corresponding stimulus.
onset_adolescent
D0000848
onset_adult
D0000846
onset_child
D0000852
onset_elderly
D0000839
onset_infant
D0000834
onset_neonate
D0000833
opsoclonus
C0242567
CN
194177006
Opsoclonus, also referred to as “saccadomania” or “dancing eyes”, is characterised by intermittent bursts of large amplitude high velocity multidirectional back to back saccades, and has also been reported in patients with viral encephalitis and metabolic encephalopathy, as well as in those with occult neuroblastoma and drug toxicity.
optic_ataxia
C4703584
MS
Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.
optic_atrophy
C0029124
CN
76976005
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
optic_disc_finding
C0423451
CN
247201009
optic_nerve_pallor
C1608971
CN
optic_neuritis
C0029134
CN
66760008
Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).
optokinetic_response_finding
C1287641
VIS
366109004
oral_apraxia
C0454608
MS
361274000
oral_dyskinesia
C0454606
EP
229694001
oromandibular_dystonia
C2242577
MOTOR
A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
orthostatic_hypotension
C0020651
28651003
fall in blood pressure associated with dizziness, syncope and blurred vision occurring upon standing or when standing motionless in a fixed position.
postiural hypotension
other_higher_cortical_functions
C2370893
MS
311465003
pain
C0030193
SX
pain_in_cervical_spine
C0423674
pain_in_lumbosacral_spine
C0423681
pain_in_thoracic_spine
C0677061
palilalia
C0392185
MS
The involuntary repetition of syllables or words while speaking. It is a form of verbal perseverative behavior.
verbal_repetition
palinopsia
C0233652
SX
25462005
visual_perseveration
pallor_of_optic_disk
C0554970
CN
302200001
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
palmomental_reflex_present
C0576496
REFLEX
299747007
The palmo-mental reflex (palm-chin reflex) is the contraction of the mentalis and orbicularis oris muscles causing wrinkling of the skin of the chin with slight retraction of the angle of the mouth as caused by stroking the skin of the ipsilateral palm.
palpebral_ptosis
C4539245
CN
papilledema
C0030353
CN
423341008
swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins.
optic_papillitis; optic_disc_edema; optic_disc_swelling; choked_disc
paracecal_scotoma
C0544679
VIS
193671003
paracentral_scotoma
C0271197
VIS
64418005
paralysis_or_weakness
C0497294
SX
paranoia
C1456784
MS
paraparesis
C0221166
WEAK
1845001
Weakness or partial paralysis in the lower limbs.
paraphasia
C0234488
MS
53096005
paraplegia
C0030486
WEAK
60389000
Complete or partial loss of movement in the lower part of the body, including both legs
paraplegic_gait
C0427159
GAIT
250035005
paresis
C0030552
WEAK
41786007
A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for paralysis (severe or complete loss of motor function).
paresthesia
C0030554
symptoms
91019004
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
paresthesias_of_arm
C0587058
SX
paresthesias_of_leg
C0948992
parkinsonian_gait
C0427160
GAIT
250036006
extra_pyramidal_gait
partial_hearing_loss
C0018772
CN
343087000
partial_third_nerve_palsy
C0271370
CN
194118007
past_pointing
C0234164
coordination_finding
49768006
patellar_clonus
C0520823
REFLEX
54360005
pendular_nystagmus
C0271388
CN
35743001
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
percussion_myotonia
C0751359
MOTOR
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
peroneal_muscle_atrophy
C1389118
ATROPHY
perseveration
C0233651
MS
44515000
Persistent repetition of a response to different and perhaps inappropriate stimuli which may be due to a refusal or an inability to interrupt one's behavior or to change from one task to another.
personality_change
C0240735
SX
102943000
A disorder characterized by a conspicuous change in a person's behavior and thinking.
phonophobia
C0751466
SX
313387002
An abnormally heightened sensitivity to loud sounds
photophobia
C0085636
SX
409668002
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
plantar_response
C0437428
REFLEX
163852006
pontine_one_and_one_half_syndrome
C1282373
CN
314783008
poor_balance
C0234964
BALANCE
249985001
Poor balance is an inability to stand upright.
bad_balance; impaired_balance; imbalance
poor_coordination
C0563243
SX
poor_erection
C0541940
SX
impotence
poor_eye_contact
C1445953
MS
412786000
poor_hygiene
C0745076
SX
Poor hygiene can be a sign of self-neglect, which is the inability or unwillingness to attend to one's personal needs. Poor hygiene often accompanies certain mental or emotional disorders, including severe depression and psychotic disorders. Dementia is another common cause of poor hygiene.
poor_long_term_memory
C0701810
MS
247588002
poor_palatal_elevation
C4227456
poor_short_term_memory
C0701811
MS
247592009
poor_visual_attention
C3553454
MS
port_wine_stain_nevus
C0206733
SKIN
post_ictal_Todds_paralysis
D0000164
post_ictal_aggressiveness
D0000144
post_ictal_amnesia
D0000145
post_ictal_aphasia
D0000147
post_ictal_confusion
D0000148
post_ictal_cough
D0000149
post_ictal_disorientation
D0000150
post_ictal_drowsiness
D0000151
post_ictal_euphoria
D0000152
post_ictal_finding
D0000153
post_ictal_frustration
D0000154
post_ictal_headache
D0000155
post_ictal_hemiparesis
D0000156
post_ictal_hunger
D0000157
post_ictal_lethargy
D0000158
post_ictal_myalgias
D0000159
post_ictal_nausea
D0000160
post_ictal_nose_wiping
D0000161
post_ictal_psychosis
D0000335
post_ictal_sleepiness
D0000162
post_ictal_speech_difficulty
D0000163
post_ictal_visual_field_defect
D0000165
post_ictal_vomiting
D0000166
postural_hand_tremor
C1865820
EP
primitive_reflex_finding
C1287652
REFLEX
366121000
prodrome_dysphoria
D0000167
prodrome_euphoria
D0000325
prodrome_finding
D0000168
prodrome_headache
D0000169
prodrome_irritability
D0000170
prodrome_mood_change
D0000324
prodrome_personality_change
D0000171
prodrome_sleep_alteration
D0000323
profound_deafness
C1864817
progressive_developmental_delay
C2673430
pronator_drift
C1504476
WEAK
428334004
proptosis
C0015300
CN
18265008
An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Also known as exophthalmos.
exophthalmos
prosopagnosia
C0234512
MS
18358003
The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition
face_agnosia; face_blindness
provocation_acoustic_stimuli
D0000172
provocation_alcohol_use
D0000173
provocation_awakening
D0000174
provocation_fatigue
D0000175
provocation_fever
D0000176
provocation_hyperventilation
D0000177
provocation_hypoglycemia
D0000178
provocation_hypoxemia
D0000179
provocation_light_flickering
D0000180
provocation_menses
D0000181
provocation_missed_meal_or_hunger
D0000182
provocation_music
D0000183
provocation_photosensitive
D0000184
provocation_reading
D0000185
provocation_sleep
D0000186
provocation_sleep_deprivation
D0000187
provocation_startle
D0000188
provocation_stress
D0000189
provocations
D0000190
proximal_amyotrophy
C1850794
ATROPHY
Amyotrophy (muscular atrophy) affecting the proximal musculature
proximal_muscle_weakness
C0221629
WEAK
249939004
A lack of strength of the proximal muscles
proximal_muscle_weakness_limb_girdle_distribution
C3809138
WEAK
proximal_weakness_of_the_lower_extremities
C2674839
WEAK
pseudobulbar_palsy
C0033790
WEAK
7379000
Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
pseudopapilledema
C0155300
CN
57138009
pseudoptosis
C0271312
CN
58200004
psychogenic_vomiting
C0233757
MS
37224001
psychomotor_retardation
C0424230
MS
398991009
Abnormally slow thought processes and physical movement.
pyschomotor impairment; motor retrdation
ptosis
C0033377
CN
29696001
ptosis_of_left_eyelid
C2143081
CN
335151000119107
ptosis_of_right_eyelid
C2143083
CN
340761000119100
pupil_finding
C0423296
CN
247010007
pyramidal_type_weakness
C0427069
WEAK
249946008
quadrantanopia
C0544680
VIS
82180009
quadrantic_scotoma
C1268591
VIS
129626006
quadriparesis
C0270790
WEAK
91327001
Weakness of all four limbs.
quadriplegia
C0034372
WEAK
11538006
Severe or complete loss of motor function in all four limbs which may result from bain diseases; spinal cord diseases; peripheral nerve diseases; neuromuscular diseases; or rarely muscular diseases. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper brainstem which injures the descending cortico-spinal and cortico-bulbar tracts.
tetraplegia
radiating_back_pain
C0850629
SX
radiating_lumbosacral_back_pain
C0850146
SX
radiating_pain
C0234254
SX
radiating_thoracic_back_pain
C0848194
SX
rebound_dysmetria
C0234163
COOR
28581003
excessive_rebound
receptive_aphasia
C0454578
MS
229664007
reduced_exercise_tolerance
C0424551
SX
267044007
Reduced ability to withstand or participate in activities that induce physical or mental exertion.
reduced_vision_in_bright_light
C4313370
VIS
reduced_visual_acuity
C0234632
VIS
13164000
Diminished clarity of vision
reflex_finding
C0596002
REFLEX
106146005
Examination of the reflexes includes deep tendon reflexes (muscle stretch reflexes), cranial nerve reflexes, primitive reflexes, cutaneous reflexes, and the plantar response.
respiratory_symptoms
C0037090
SX
resting_tremor
C0234379
EP
25082004
A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse
pill rolling tremor
restless
C3887611
162221009
An inability to rest, relax, or be still.
restlessness
retinal_arteriolar_occlusion
C4024761
CN
retinal_artery_occlusion
C0035302
CN
232035005
An occlusion of the retinal artery.
retinal_hemorrhage
C0035317
CN
28998008
Hemorrhage occurring within the retina.
retraction_nystagmus
C0520731
CN
9074007
retrocollis
C3887667
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
retroorbital_eye_pain
C0743724
SX
retropulsion
C0277845
BALANCE
35136003
Retropulsion is a form of balance instability in which patients fall backwards. It commonly observed in patients with balance difficulties due to Parkinson's disease.
reverse_ocular_bobbing
C0585559
CN
307691008
Reverse ocular bobbing is an abnormal spontaneous eye movement in which the eyes move rapidly and conjugately upwards (fast phase), followed by a slow drift (slow phase) back to the primary position (that is, the reverse of ocular bobbing—fast conjugate downwards deviation, with a slow return up to the midline). This eye movement disorder may be seen in patients with viral encephalitis, metabolic encephalopathy, and in those with pontine lesions.
right-left_confusion
C0422885
MS
1943009
left-right_confusion; left-right_disorientation
right_carotid_bruit
C0694543
NECK
right_equivocal_plantar_response
C0576643
REFLEX
299895008
right_facial_droop
C3842071
CN
right_foot_drop
C4280872
WEAK
right_hemiparesis
C0457435
WEAK
right_hemiplegia
C0457433
278284007
right_homonymous_hemianopia
C0271203
5591009
right_proptosis
C2126061
CN
Bulging forward of the right eye. Right exophthalmos.
right_exophthalmos
right_sided_headache
C2219285
SX
risk_OSA
D0000201
risk_asphyxia_anoxia
D0000191
risk_concussion
D0000192
risk_dementia
D0000193
risk_encephalitis
D0000194
risk_factor
D0000195
risk_family_history_psychiatric_disease
D0000337
risk_family_history_seizures
D0000196
risk_febrile_seizures
D0000197
risk_head_injury
D0000198
risk_hepatic_failure
D0000199
risk_medication_noncompliance
D0000200
risk_perinatal_brain_insult
D0000202
risk_prior_stroke
D0000203
risk_psychiatric_disease
D0000336
risk_renal_failure
D0000204
rooting_reflex_present
C0576499
REFLEX
299750005
A rooting (searching) reflex is when the lips and mouth deviate toward a tactile stimulus delivered to the cheek or near the mouth.
rotatory_nystagmus
C0240595
CN
95783006
A form of nystagmus in which the eyeball makes rotary motions around the axis.
saccadic_eye_movement_deficiency
C0234649
CN
79161002
ocular_dysmetria
saccadic_intrusions
C1854375
CN
sacral_root_injury
C0161445
SENSORY
saddle_area_numbness
C3266098
scanning_dysarthria
C0240952
scanning_speech
C0278184
77420001
Scanning speech is a type of ataxic dysarthria in which spoken words are broken up into separate syllables, often separated by a noticeable pause, and spoken with varying force.
scintillations
C0678573
SX
scotoma
C0036454
VIS
23388006
Localized defect in the visual field bordered by an area of normal vision.
scotoma_of_blind_spot_area_right_eye
C2881395
VIS
scotoma_of_blind_spot_left_eye
C2881396
VIS
see_saw_nystagmus
C0344243
CN
95782001
Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.
seizures
C0036572
SX
selective_mutism
C0236818
MS
71959007
A voluntary form of mutism, often associated with psychiatric illness.
elective_mutism
semantic_aphasia
C0234482
MS
331652006
senile_tremor
C0149840
EP
112109002
sensation_absent
C3842091
SENSORY
sensory_ataxia
C0240991
COOR
445458007
Proprioceptive deficits may produce truncal or appendicular ataxia that resembles cerebellar ataxia. The Romberg test may disclose that the truncal ataxia is due to proprioceptive as opposed to cerebellar dysfunction if the patient begins to sway with feet together when the eyes are closed.
sensory_finding
C1291731
SENSORY
106147001
sensory_level
C1262068
SENSORY
sensory_level_to_pain_and_temperature
C2016535
SENSORY
sensory_level_to_pain_and_temperature_below_C5
C2016544
SENSORY
sensory_level_to_pain_and_temperature_below_C7
C2016539
SENSORY
sensory_level_to_pain_and_temperature_below_T10
C2016549
SENSORY
sensory_level_to_pain_and_temperature_below_T12
C2016548
SENSORY
sensory_level_to_pain_and_temperature_below_T2
C2016536
SENSORY
sensory_level_to_pain_and_temperature_below_T4
C2016542
SENSORY
sensory_level_to_touch
C2054088
SENSORY
sensory_level_to_touch_at_C5
C2054098
SENSORY
sensory_level_to_touch_at_C7
C2054092
SENSORY
sensory_level_to_touch_at_T10
C2054104
SENSORY
sensory_level_to_touch_at_T12
C2054101
SENSORY
sensory_level_to_touch_at_T2
C2054091
SENSORY
tactile_sensation_decreased_sensory_level_at_clavicles_T2_dermatome
sensory_level_to_touch_at_T4
C2054095
SENSORY
sensory_level_to_vibration
C2189597
SENSORY
sensory_level_to_vibration_at_clavicles
C2189598
SENSORY
sensory_level_to_vibration_at_iliac_spine
C2189601
sensory_level_to_vibration_at_xiphisternum
C2189604
sensory_loss_in_nerve_distribution
C2016489
SENSORY
sensory_loss_in_root_distribution
C2016490
SENSORY
sensory_symptoms
C0423551
SX
severe_headache
C2957106
SX
severe_headache_with_sudden_onset
C2203729
SX
shagreen_patch
C0432363
SKIN
sharp_headache
C0751190
SX
short_stature
C0349588
shortness_of_breath
C0013404
SX
shoulder_numbness
C0863108
SX
shoulder_pain
C0037011
SX
shuffling_gait
C0231688
GAIT
43005009
simple_partial_seizure
C0086240
SX
simultanagnosia
C0563620
MS
285755009
sixth_nerve_palsy
C0848209
CN
398760006
sixth_nerve_palsy_left_eye
C2881290
CN
sixth_nerve_palsy_right_eye
C2881289
CN
skeletal_muscle_atrophy
C0541794
ATROPHY
A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse.
skew_deviation
C0271381
CN
40631009
skin_finding
C0455205
skin_symptoms
C0586407
SX
sleep_paralysis
C0456511
SX
An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.
sleep_related_hallucinations
C2919925
SX
sleep_symptoms
C2232698
SX
slow_gait
C1851908
GAIT
slow_saccades
C1321329
CN
slow_speech
C1859270
SX
slurred_speech
C0234518
SX
small_head_circumference
C0424688
HEAD
small_optic_disc
C1828214
CN
423389004
small_pupil
C0728710
CN
301939004
smooth_pursuit_deficiency
C0155382
CN
194176002
snout_reflex_present
C0576502
REFLEX
299753007
The snout reflex is puckering and protrusion of the lips upon pressing firmly on the philtrum of the upper lip or tapping on the on the lips. It is a primitive release reflex generally indicative of frontal lobe injury.
somnulence
C2830004
271782001
Excessive sleepiness and drowsiness
spastic_diplegia
C0023882
WEAK
281411007
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Littles_disease
spastic_dysarthria
C0454596
MS
229684006
A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
spastic_gait
C0231687
GAIT
9447003
spasticity
C0026838
MOTOR
221360009
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
spatial_disorientation
C0422893
MS
112077003
speech_finding
C0566622
MS
106132005
speech_impairment
C0233715
SX
spinal_injury
C0037937
SX
spine_pain
C0423673
SX
staggering_gait
C0701824
78691002
startle_myoclonus
C1836826
EP
static_encephalopathy
C3662068
MS
47311000119103
stereognosis_impaired
C0437345
MS
163754003
stiff_gait
C1861462
GAIT
stiff_legged_gait
C0427140
GAIT
310021000009109
stocking_sensory_loss
C0277852
SENSORY
66085007
stooped_posture
C4476759
EP
87068006
A habitual positioning of the body with the head and upper back bent forward
strabismus
C0038379
CN
22066006
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
squint; heterotropia
straight_leg_raising_reduced
C0575461
SENSORY
298687002
With patient lying comfortably on his or her back, the examiner gently life the extended leg off the examination table. The patient reports when they experience low back pain or pain radiating down the leg
positive_straight_leg_raising_test; Laseque_sign
straight_leg_raising_test_positive
C0241261
SENSORY
stupor_obtunded
C0085628
MS
89458003
A state of reduced sensibility and response to stimuli which is distinguished from coma in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. Stupor is more severe than drowsiness and stuporous patients may not achieve full consciousness even with vigorous stimulation.
obtundation; stuporous; obtunded
stuttering
C0038506
MS
Disorder in which speech is involuntarily interrupted by hesitations, repetitions, and spasms of the muscles involved in breathing or vocalization.
dysfluency
subcortical_aphasia
C0234483
MS
5934007
subungual_fibroma
C0266003
SKIN
sucking_reflex_present
C0576505
REFLEX
299756004
The sucking reflex is elicited by lightly touching the lips causing sucking movements of the lips and tongue. It is normal in infants but abnormal in adults.
suicidal
C0438696
MS
267073005
supraorbital_pain
C2037494
SX
swallowing_reflex_absent
C0576509
CN
299760001
symptom
C1457887
SX
Usually a complaint by the patient that is indicative of a disease process.
syncope
C0039070
SX
tactile_agnosia
C0234505
25094008
Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on based on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.
astereognosis
tactile_extinction
C0278135
MS
tactile_inattention
C2039768
MS
extinction
tandem_gait_test_abnormal
C1142034
GAIT
401211005
Reduced ability to walk in a straight line while placing the feet heal to toe
tangential_thinking
C0558067
74396008
tardive_dyskinesia
C0686347
EP
102449007
iatrogenic extrapyramidal disorder produced by long-term administration of antipsychotic drugs; characterized by oral/lingual/buccal dyskinesias and choreoathetoid movements of the extremities.
tardive_dystonia
tearing
C0423153
SX
tendency_to_fall
C2830327
thenar_eminence_atrophy
C0241360
thermal_hypesthesia
C0234190
SENSORY
1140008
third_nerve_palsy
C0271371
CN
third_nerve_palsy_left_eye
C2881282
CN
third_nerve_palsy_right_eye
C2881281
CN
thoracic_back_pain
C0423684
SX
thoracic_root_injury
C0161443
SENSORY
thought_process_finding
C1286920
MS
365252004
threatening_behavior
C0562573
284614009
throbbing_headache
C0423618
SX
tic
C0040188
EP
568005
Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition.
tingling_in_fingers
C0850630
SX
tingling_of_feet
C2116331
tingling_of_skin
C0235050
tinnitus
C0040264
SX
60862001
symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, roaring or other noises in the ear.
tinnitus_left_ear
C2116482
SX
4841000119106
tinnitus_right_ear
C2116484
SX
titubation
C0231690
EP
78691002
Nodding movement of the head or body.
tongue_atrophy
C0241423
50805004
tongue_is_weak
C0235075
CN
tongue_weakness
C3277232
CN
tonic_clonic_seizure
C0494475
SX
tonic_pupil
C0040416
CN
24225004
Either no or sluggish response to light (both direct and consensual responses. Thought to be caused from denervation in the postganglionic parasympathetic nerve. Associated with Holmes-Adie syndrome described with Adie's pupil and absent deep tendon reflexes. Overall, this is a benign process (including Holmes-Adie syndrome)
Adie_pupil
topographical_agnosia
C0271189
MS
83824009
torticollis
C0040485
MOTOR
270476009
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
wry_neck
total_third_nerve_palsy
C0028866
CN
388980004
Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression.
transcortical_aphasia
C0679447
MS
130990006
transcortical_motor_aphasia
C0454562
MS
229655002
transcortical_sensory_aphasia
C0454568
MS
229658000
transient_amnesia
C0233796
SX
307413004
A temporary and reversible loss of memory.
transient_aphasia
C4524123
SX
transient_disturbance_of_consciousness
C0858596
SX
transient_loss_of_consciousness
C4087400
SX
transient_visual_loss
C1142390
SX
transient_weakness
C2183888
SX
trauma
C3714660
SX
tremor
C0040822
EP
26079004
An unintentional, oscillating to-and-fro muscle movement about a joint axis. Tremors are classified by their etiology (familial, parkinsonian, etc.), their location (head, limb, etc.), frequency (slow or fast), or eleciting factor (rest, action, etc.),
tremor_in_hands
C0239842
EP
truncal_ataxia
C0427190
COOR
250067008
Truncal ataxia is manifested by swaying while standing or walking. Its origins may reflect dysfunction of cerebellar or proprioceptive systems.
truncal_dystonia
C4228843
MOTOR
trunk_paresthesia
C0241498
unable_to_protrude_tongue
C0426983
CN
unable_to_read
C0586741
MS
309252004
unable_to_stand
C0560885
BALANCE
unable_to_talk
C0278249
SX
286375007
mute; no_speech
unconscious
C0041657
MS
418107008
Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli.
uncooperative
C0424350
MS
248042003
not willing to do what someone wants or asks for; not cooperative
unilateral_neglect
C0150088
MS
32422007
Impairment in sensory and motor response, mental representation, and spatial attention of the body, and the corresponding environment, characterized by inattention to one side and overattention to the opposite side. Left-side neglect is more severe and persistent than right-side neglect.
hemineglect
unkempt
C0233429
SX
46017004
deficient in order or neatness
unresponsive
C0237284
MS
422768004
non_responsive
unresponsive_to_painful_stimuli
C1262130
MS
unresponsive_to_stimuli
C0857494
MS
unresponsive_to_verbal_stimuli
C1504376
MS
unresponsiveness
C0241526
MS
unsteady_gait
C0231686
GAIT
22631008
A shaky or wobbly manner of walking.
unsteady_waddling_gait
C4227868
unsteady_when_standing
C0427117
BALANCE
249990003
Unsteady when standing is characterized by swaying or falling of the patient when standing upright.
unsteady_wide_based_gait
C4229671
upper_and_lower_limb_weakness
C4313875
WEAK
upper_facial_weakness
C0575058
CN
298281008
upper_limb_dysmetria
C3280708
COOR
upper_limb_dystonia
C1843267
upper_limb_hyperreflexia
C1843175
REFLEX
upper_limb_nerve_lesion
C0574717
upper_limb_numbness
C0241538
SX
upper_limb_spasticity
C1273957
MOTOR
394680009
urinary_frequency
C0042023
SX
Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation.
urinary_incontinence
C0042024
SX
165232002
Loss of the ability to control the urinary bladder leading to involuntary urination.
urinary_retention
C0080274
130951007
Inability to completely empty the urinary bladder during the process of urination
urinary_symptoms
C0426359
SX
vagal_hoarseness
C0270882
45655002
50219008
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
verbal_paraphasia
C0234491
MS
4381006
vertical_diplopia
C0751079
vertical_gaze_palsy
C0339652
CN
246773002
A vertical gaze palsy may be the inability to look upward or downward.
poor upgaze; upgaze palsy; upgaze weakness
vertical_nystagmus
C0271386
CN
111533001
Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
vertigo
C0042571
SX
Vertigo is a symptom, rather than a condition itself. It's the sensation that you, or the environment around you, is moving or spinning
vesciular_rash
C0221203
SX
53788007
vestibulo-ocular_reflex_abnormal
C0576567
CN
299818006
Dolls_head_reflex_absent; Dolls_head_reflex_abnormal
vibration_sense_absent
C0558843
274816000
visual_agnosia
C0234502
MS
25762009
Difficulty in recognizing objects by visual input in absence of sensorial visual impairment
visual_field_defect
C3887875
VIS
12184005
An absolute or relative reduction in the extent of the normal field of vision
visual_gaze_preference
C4476823
CN
gaze preference
visual_hallucination
C0233763
SX
64269007
Optical perception of an object, person or event in the absence of a corresponding stimulus.
visual_impairment
C3665347
VIS
397540003
visual_inattention
C1856977
MS
visual_neglect
C0423000
MS
246670009
visual_obscuration
C1321318
VIS
404666000
visual_spatial_memory_deficit
C4228414
visual_symptoms
C0422943
SX
vocal_cord_palsy
C0042928
CN
302912005
A loss of the ability to move the vocal folds.
vocal_tic
C0751901
MOTOR
voice_change
C0518179
SX
voice_tremor
C0234808
EP
55938009
vomiting
C0042963
SX
249497008
emesis
waddling_gait
C0231712
GAIT
271706000
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling.
wasting_of_tongue
C0426494
CN
249382006
weak_cough
C2202983
CN
248590003
weak_eye_closure
C0427059
CN
249935005
weak_right_hand
C2202993
WEAK
weak_vocie
C0241700
MS
weakness_finger_flexors
C4477022
WEAK
Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.
weakness_in_both_legs
C2219734
WEAK
weakness_left_face
C4543253
CN
weakness_of_abdominals
C4062696
WEAK
weakness_of_anal_sphincter
C0426766
WEAK
249647002
poor_anal_tone
weakness_of_ankle
C2228039
WEAK
Reduced strength of the muscles that lift or otherwise move the foot at the ankle.
weakness_of_ankle_dorsiflexion
C2230515
WEAK
weakness_of_ankle_eversion
C2230518
WEAK
weakness_of_ankle_inversion
C2230517
WEAK
weakness_of_ankle_plantar_flexion
C2230516
WEAK
weakness_of_arm
C0751409
WEAK
249944006
monoparesis_of_arm
weakness_of_biceps
C0741478
weakness_of_deltoid
C2230475
weakness_of_finger_abduction_left_hand
C2070310
WEAK
weakness_of_finger_abduction_of_right_hand
C2070309
WEAK
weakness_of_finger_extensors
C1832298
WEAK
weakness_of_fingers
C0744034
weakness_of_foot
C0576233
WEAK
299471001
weakness_of_forearm
C2202998
weakness_of_forearm_on_supination
C2237227
weakness_of_hand
C0575810
299042006
weakness_of_hand_grip
C0239822
WEAK
weakness_of_hip
C2031318
WEAK
weakness_of_hip_abductors
C2237231
WEAK
weakness_of_hip_adductors
C2237235
WEAK
weakness_of_hip_extensors
C2237239
WEAK
weakness_of_hip_flexors
C2237244
WEAK
weakness_of_intrinsic_hand_muscles
C1834536
WEAK
weakness_of_jaw_muscles
C0240080
CN
249886001
Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes.
hemianopsia
weakness_of_knee
C2110749
WEAK
weakness_of_knee_extension
C0577655
WEAK
weakness_of_knee_flexors
C2202999
WEAK
weakness_of_left_arm
C2202995
WEAK
15633401000119107
weakness_of_left_hand
C2141892
WEAK
15639641000119109
weakness_of_left_leg
C2165879
WEAK
15633481000119104
weakness_of_leg
C0427068
WEAK
249945007
monoparesis_of_leg
weakness_of_muscle_group
C0151786
WEAK
26544005
Reduced strength of muscles that perform specific actions at a joint.
weakness_of_muscles_of_mastication
C4062882
CN
weakness_of_neck_extensors
C2230238
WEAK
weakness_of_neck_flexors
C1843637
WEAK
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
weakness_of_right_arm
C2202996
WEAK
15633441000119109
weakness_of_right_hand
C2196582
WEAK
13530001000004108
weakness_of_right_leg
C2218016
WEAK
weakness_of_sternomastoid
C0426997
CN
The sternocleidomastoid muscle (SCM) acts to turn the head to the opposite side. Acting together, the two SCMs thrust the head forward and flex the neck
weakness_of_thumb_abduction
C2070740
WEAK
weakness_of_thumb_opposition
C2070739
WEAK
weakness_of_toe
C0576333
WEAK
299575007
weakness_of_trapezius
C2177090
CN
Strength of the trapezius muscle is usually tested by shrugging of the shoulders, although the levator scapulae contributes to this action. Another test of the trapezius is to have the patient attempt to approximate the occipitut of the head to the acromion of the shoulder. When the trapezius is weak the arms hang lower on the affected side and the finger tips touch the hips at a lower level on the affected side.
weakness_of_triceps
C2230441
WEAK
A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.
weakness_of_wrist
C2127518
WEAK
weakness_of_wrist_extension
C2230402
WEAK
wrist_drop
weakness_of_wrist_flexion
C2230398
WEAK
weight_loss
C1262477
SX
262285001
The reduction of overall body mass; may be due to disease, diet, or drugs; can be permanent or temporary, and may involve any tissue.
wide_based_gait
C0856863
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
winged_scapula
C0240953
WEAK
17211005
Abnormal protrusion of the scapula away from the surface of the back
withdrawal
C2825032
MS
A social or emotional detachment, pathological retreat from objective reality, interpersonal contact and social involvement, as in some forms of schizophrenia, depression, or schizoid, avoidant, or schizotypal personality disorders.
withdrawn
C0424092
247755007
witzelsucht
C1408582
MS
Witzelsucht "joking addiction") is characterized by a tendency to make puns, or tell inappropriate jokes or pointless stories in socially inappropriate situations. It often occurs in disinhibited patients with frontal lobe damage.
word_deafness
C1366485
MS
3387000
C1836949
VIS
ESSO:Acquired_Epileptic_Aphasia
D0000352
ILAE 1989
Acquired epileptic aphasia
(Landau-Kleffner syndrome)
The Landau-Kleffner syndrome is a childhood disorder in which an acquired aphasia, multifocal spike, and spike and wave discharges are associated. Epileptic seizures and behavioral and psychomotor disturbances occur in two-thirds of the patients. There is verbal auditory agnosia and rapid reduction of spontaneous speech. The seizures, usually GTCS or partial motor, are rare, and remit before the age of 15 years, as do the EEG abnormalities.
Landau-Kleffner syndrome
ESSO:Acquired_Immune_Deficiency_Syndrome_AIDS
D0000353
Scheuermann 2009
AIDS as a disease that disposes to non-HIV pathogen persistence and duplication (pathological processes) following opportunistic infections that take advantage of a weakened immune system (physical basis).
ESSO:Acute_Encephalitis_with_Refractory_Repetitive_Partial_Seizures_AERRPS
D0000354
ESSO:Age_Currently
D0000351
1970 Gastaut
Age
1981 Bancaud
Ictal
ILAE 1989
ESSO:Age_of_Onset
D0000358
ILAE 1969
Age
ILAE 1989
Age of Onset
2003 Blume
Determination hinges on seizure description, frequency, age at onset, neurological history, functional enquiry, neurological examination and one or more EEGs
2006 Engel
2010 Berg
ESSO:Aicardi_Syndrome
D0000359
ILAE 1989
Aicardi syndrome occurs in females and is noted for retinal lacunae and absence of the corpus callosum; infantile spasms with early onset; and often asymmetric, diffuse EEG abnormalities generally asynchronous with suppression burst and/or atypical hypsarrhythmia.
Engel 2001
Aicardi syndrome
ESSO:Alcohol-Withdrawal_Seizures
D0000360
ESSO:Aminoacidopathy
D0000363
Engel 2001
Aminoacidopathies
ESSO:Amygdalo-Hippocampal_Seizures
D0000364
ILAE 1989
Amygdalo-hippocampal (mesiobasal limbic or rhinoencephalic) seizures. Hippocampal seizures are the most common form; the symptoms are those described in the previous paragraphs except that auditory symptoms may not occur. The interictal scalp EEG may be normal, may show interictal unilateral temporal sharp or slow waves, may show bilateral sharp or slow waves, synchronous or asynchronous. The intracranial interictal EEG may show mesial anterior temporal spikes or sharp waves. Seizures are characterized by rising epigastric discomfort, nausea, marked autonomic signs, and other symptoms, including borborygmi, belching, pallor, fullness of the face, flushing of the face, arrest of respiration, pupillary dilatation, fear, panic, and olfactory-gustatory hallucinations.
ESSO:Angelman_Syndrome
D0000366
Engel 2001
Angelman Syndrome
ESSO:Anterior_Frontopolar_Epilepsy
D0000369
ILAE 1989
Anterior frontopolar epilepsy
Anterior frontopolar seizure patterns include forced thinking or initial loss of contact and adversive movements of head and eyes, with possible evolution including contraversive movements and axial clonic jerks and falls and autonomic signs.
ESSO:Antibody-Associated_Limbic_Encephalitis
D0000372
Suleiman 2013
Faciobrachial dystonic seizures are seen in adults in association with LGI1 antibodies and often precede the onset of the limbic encephalitis (Irani et al., 2011).
Other NSAbs are less frequently found in adults with limbic encephalitis such as alpha amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) and c-aminobutyric acid B (GABAB) receptor antibodies (Lai et al., 2009; Lancaster et al., 2010; Boronat et al., 2011). Antibodies to glutamic acid decarboxylase (GAD) have been associated with limbic encephalitis (Malter et al., 2010). Although GAD is an intracellular antigen and therefore GAD Abs themselves may not be pathogenic, it is possible that unrecognized NSAbs coexist with GAD Abs (Zuliani et al., 2012).
Limbic encephalitis has been described in association with a number of different autoantibodies including VGKC-complex Abs (Haberlandt et al., 2011; Suleiman et al., 2011a).
ESSO:Autoimmune_Diseases
D0000375
Suleiman 2013
Criteria and supportive features to suspect autoimmune epilepsy in children with seizures:
The following two clinical criteria are used to suspect autoimmune epilepsy associated with NSAbs and GAD antibodies (both are needed)
1 Acute or subacute (<12 weeks) onset of symptoms.
2 Exclusion of other causes (CNS infection, trauma, toxic, tumor, metabolic, previous CNS disease).
The following supportive features would strengthen the suspicion of autoimmune epilepsy (patients should have at least 1 of the following):
1 The presence of a well-defined clinical syndrome such as NMDAR or limbic encephalitis
2 CNS inflammation manifested by at least one of:
a CSF pleocytosis (defined as >5 white cells/mm3) or presence of oligoclonal bands, elevated IgG index, or elevated
neopterin (defined as >30 nM)
b MRI abnormality compatible with an inflammatory or autoimmune encephalitis including increased signal in the
mesiotemporal lobe (LE – like syndrome)
c Inflammatory neuropathology on biopsy
3 History of other antibody mediated condition (e.g., myasthenia gravis), organ specific autoimmunity or other autoimmune
disorders. (It is recognized that epilepsy is more common in many autoimmune disorders including multiple sclerosis, systemic lupus erythematosus, type 1 diabetes mellitus
(T1DM), celiac disease, and autoimmune thyroid disease (Vincent & Crino, 2011).)
4 Response to immunotherapy
Classification categories of suspected autoimmune epilepsy in children identified using the criteria and supportive features in Table 1 (Zuliani et al., modified)
Classification categories expressing the likelihood of autoimmune epilepsy based on the presence of NSAbs and GAD Abs and the response to immunotherapy (see Fig. 1):
Definite autoimmune epilepsy is present if:
Known NSAbs are present in serum or CSF
AND there is response to immunotherapy
Probable autoimmune epilepsy is present if
Known NSAbs are present and no immunotherapy responsiveness demonstrated
(immunotherapy unsuccessful or not given)
OR GAD antibodies are present AND there is response to immunotherapy
Possible autoimmune epilepsy is present if known NSAbs are negative and
GAD antibodies are present and no immunotherapy responsiveness demonstrated
(unsuccessful or not given)
OR GAD antibodies are negative and there is a response to immunotherapy
Unlikely autoimmune epilepsy is present if
Known NSAbs and GAD are negative and there is no response to immunotherapy
Unknown autoimmune epilepsy(a) is present if
Known NSAbs and GAD are negative and immunotherapy is not given
(a)Patients in this category may move to a different category if they receive immunotherapy, such as “possible” if they respond or “unlikely” if they did not respond to immunotherapy.
ESSO:Autoimmune_Thyroid_Disease
D0000376
ESSO:Autosomal-Dominant_Nocturnal_Frontal_Lobe_Epilepsy_ADNFLE
D0000381
Engel 2001
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Engel 2006
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
ILAE 2010
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
ESSO:Autosomal_Dominant_Epilepsy_with_Auditory_Features_ADEAF
D0000377
ILAE 2010
Autosomal Dominant Epilepsy with Auditory Features (ADEAF)
ESSO:B12_Metabolism_Disorder
D0000382
Engel 2001
DIsorders of folic acid and B12 metabolism
ESSO:Benign_Childhood_Epilepsy_with_CentroTemporal_Spikes
D0000383
ILAE 1989
Benign childhood epilepsy with centrotemporal spikes
Benign childhood epilepsy with centrotemporal spikes is a syndrome of brief, simple, partial, hemifacial motor seizures, frequently having associated somatosensory symptoms which have a tendency to evolve into GTCS. Both seizure types are often related to sleep. Onset occurs between the ages of 3 and 13 years (peak 9-10 years), and recovery occurs before the age of 15-16 years. Genetic predisposition is frequent, and there is male predominance. The EEG has blunt high-voltage centrotemporal spikes, often followed by slow waves that are activated by sleep and tend to spread or shift from side to side.
Engel 2001
Benign Childhood Epilepsy with Centrotemporal Spikes
ESSO:Benign_Epilepsy_of_Childhood_with_Central_Temporal_Spikes_BECTS
D0000384
ILAE 2010
Benign Epilepsy of Childhood with Central Temporal Spikes (BECTS)
Fischer 2014
It makes little sense to say that someone has an epilepsy syndrome but not epilepsy. If evidence exists for an epilepsy syndrome, then epilepsy may be presumed to be present, even if the risk of subsequent seizures is low.
ESSO:Benign_Familial_Infantile_Epilepsy
D0000385
Engel 2001
Benign Familial Infantile Seizures
ILAE 2010
Benign Familial Infantile Epilepsy
ESSO:Benign_Familial_Infantile_Seizure
D0000386
ESSO:Benign_Familial_Neonatal_Epilepsy_BFNE
D0000387
ILAE 2010
Benign Familial Neonatal Epilepsy (BFNE)
ESSO:Benign_Familial_Neonatal_Seizures_BFNS
D0000388
Engel 2001
Benign Familial Neonatal Seizures
ESSO:Benign_Focal_Epilepsy
D0000389
ESSO:Benign_Infantile_Epilepsy
D0000390
ILAE 2010
Benign Infantile Epilepsy
ESSO:Benign_Infantile_Seizure
D0000391
Engel 2001
Benign Infantile Seizures
ESSO:Benign_Infantile_Seizure_Nonfamilial
D0000392
Engel 2001
Benign Infantile Seizures Nonfamilial
ESSO:Benign_Myoclonic_Epilepsy_in_Infancy
D0000393
ILAE 1989
Benign myoclonic epilepsy in infancy is characterized by brief bursts of generalized myoclonus that occur during the first or second year of life in otherwise normal children who often have a family history of convulsions or epilepsy. EEG recording shows generalized spike-waves occurring in brief bursts during the early stages of sleep. These at- tacks are easily controlled by appropriate treatment. They are not accompanied by any other type of seizure, although GTCS may occur during adolescence. The epilepsy may be accompanied by a relative delay of intellectual development and minor personality disorders.
Engel 2001
Benign Myoclonic Epilepsy In Infancy
ESSO:Benign_Neonatal_Convulsions
D0000394
ILAE 1989
Benign neonatal convulsions are very frequently repeated clonic or apneic seizures occurring at about the fifth day of life, without known etiology or concomitant metabolic disturbance. Interictal EEG often shows alternating sharp theta waves. There is no recurrence of seizures, and the psychomotor development is not affected.
ESSO:Benign_Neonatal_Familial_Convulsions
D0000395
ILAE 1989
Benign neonatal familial convulsions are rare, dominantly inherited disorders manifesting mostly on the second and third days of life, with clonic or apneic seizures and no specific EEG criteria. History and investigations reveal no etiologic factors. About 14% of these patients later develop epilepsy.
ESSO:Benign_Neonatal_Seizures_BNS
D0000396
ILAE 2010 Benign Neonatal Seizures (BNS)
ESSO:Benign_Occipital_Epilepsy
D0000397
ESSO:Benign_Rolandic_Epilepsy_of_Childhood_BREC
D0000398
ESSO:Bilateral_Perisylvian_Syndrome
D0000399
Engel 2001
Bilateral perisylvian syndrome
ESSO:Biopterins_Deficiency
D0000401
ESSO:Biotin_Metabolism_Disorder
D0000402
Engel 2001
Disorders of biotin metabolism
ESSO:Blitz-Nick-Salaam_Krampfe
D0000403
ESSO:Carbohydrate_Metabolism_DIsorder
D0000468
Engel 2001
Disorders of Carbohydrate Metabolism
ESSO:Celiac_Disease
D0000470
Engel 2001
Celiac disease
(Epilepsy With Occipital Calcifications And Celiac Disease)
ESSO:Ceroid-Lipofuscinosis
D0000476
ESSO:Ceroid_Lipofuscinosis
D0000475
Engel 2001
Ceroid lipofuscinosis
ESSO:Chemically_Induced_Seizure
D0000477
Engel 2001
Drug or other chemically induced seizures
ESSO:Cherry_Red_Spot_Myoclonus_Syndrome
D0000478
ILAE 1989
Cherry Red Spot Myoclonus Syndrome
The clinical picture for the cherry red spot myoclonus syndrome (sialidosis with isolated deficit in neuraminidase) is very similar to that of the Ramsay-Hunt syndrome, with myoclonus, photosensitivity, and cerebellar syndrome. Other characteristics include the nearly constant existence of amblyopia and presence of a cherry red spot on fundoscopic examination. The EEG is similar to that of DCM with the following specific features: The polyspike-wave discharges always correspond to a massive myoclonus and there is no photosensitivity
ESSO:Childhood_Absence_Epilepsy
D0000480
ILAE 1989
Childhood Absence Epilepsy
Pyknolepsy occurs in children of school age (peak manifestation age 6-7 years), with a strong genetic predisposition in otherwise normal children. It appears more frequently in girls than in boys. It is characterized by very frequent (several to many per day) absences. The EEG reveals bilateral, synchronous symmetrical spike-waves, usually 3 Hz, on a normal background activity. During adolescence, GTCS often develop. Otherwise, absences may remit or, more rarely, persist as the only seizure type.
Engel 2001
Childhood Absence Epilepsy
ILAE 2010
Childhood Absence Epilepsy
ESSO:Childhood_Epilepsy_with_Occipital_Paroxysms
D0000481
ILAE 1989
Childhood Epilepsy with Occipital Paroxysms
The syndrome of childhood epilepsy with occipital paroxysms is, in general respects, similar to that of benign childhood epilepsy with centrotemporal spikes. The seizures start with visual symptoms (amaurosis, phosphenes, illusions, or hallucinations) and are often followed by a hemiclonic seizure or automatisms. In 25% of cases, the seizures are immediately followed by migrainous headache. The EEG has paroxysms of high-amplitude spike-waves or sharp waves recurring rhythmically on the occipital and posterior temporal areas of one or both hemispheres, but only when the eyes are closed. During seizures, the occipital discharge may spread to the central or temporal region. At present, no definite statement on prognosis is possible.
ESSO:Chromosomal_Abnormality
D0000482
Engel 2001
Chromosomal Abnormalities
ESSO:Chronic_Progressive_Epilepsia_Partialis_Continua_of_Childhood
D0000483
Bancaud 1981
When focal motor seizure activity is continuous it is known as epilepsia partialis continua
ILAE 1989
Chronic Progressive Epilepsia Partialis Continua of Childhood (Kojewnikow's Syndrome)
ESSO:Cingulate_Seizures
D0000486
ILAE 1989
Cingulate. Cingulate seizure patterns are complex partial with complex motor gestural automatisms at onset. Autonomic signs are common, as are changes in mood and affect.
ESSO:Classical_Phenylketonuria
D0000487
ILAE 1989
The classical phenylketonuria can express itself as a West syndrome. A variant of phenylketonuria with biopterins deficiency causes seizures starting in the second 6 months of life in infants who have been hypotonic since birth. The seizures are generalized motor seizures associated with erratic myoclonic jerks and oculogyric seizures.
ESSO:Coffin-Lowry_Syndrome
D0000489
Engel 2001
Coffin-Lowry syndrome
ESSO:Cortical_Malformation_Abnormal_Development
D0000491
Engel 2001
Malformations due to abnormal cortical developments
ESSO:D-Glyceric_Acidemia
D0000493
Engel 2001
D-Glyceric Acidemia
ESSO:Degenerative_Progressive_Myoclonus_Epilepsy_Finnish_Type
D0000494
ESSO:Degenerative_Progressive_Myoclonus_Epilepsy_Lundborg_Type
D0000495
ILAE 1989
Degenerative progressive myoclonic epilepsy (Lundborg type)
The so-called degenerative progressive myoclonic epilepsy (Lundborg type) also falls into this category. The only significant well-individualized group is the Finnish type, described by Koskiniemi et al. (1974). Onset occurs between the ages of 8 and 13 years, with myoclonus (segmental, fragmentary, and massive) and GTCS, associated cerebellar ataxia, and slowly progressive although generally mild mental deterioration. The EEG shows slow abnormalities (theta rhythms and later, delta rhythms), with generalized spike-waves predominantly in the frontal area and photosensitivity. Patients survive >15 years.
ESSO:Denatorubropallidoluysian_Atrophy
D0000497
Engel 2001
Dentatorubropallidoluysian atrophy
ESSO:Devastating_Epileptic_Encephalopathy_in_School_Aged_Children_DESC
D0000498
2013 Suleiman
Previous terms used to describe similar syndromes include devastating epileptic encephalopathy in schoolaged children (DESC) (Mikaeloff et al., 2006) and acute encephalitis with refractory repetitive partial seizures (AERRPS) (Sakuma, 2009). These conditions are characterized by new-onset refractory focal status epilepticus, preceded by fever or infection in previously normal children, followed by a chronic phase of refractory focal epilepsy and severe neurologic impairment (Sakuma et al., 2010). The cause of these conditions is unknown and underlying immune mechanisms have been proposed (Sakuma et al., 2010; Specchio et al., 2010; Nabbout et al., 2011) but not proven.
ESSO:Diabetes_Mellitus_Type_1
D0000499
Suleiman 2013
T1DM is a T cell–mediated autoimmune disorder, and there is an increased prevalence of epilepsy in children with this disease (Schober et al., 2012).
ESSO:Doose_Syndrome
D0000507
"Doose Syndrome, also called Myoclonic-Astatic Epilepsy (MAE), is an epileptic condition in children that has no known cause. The seizures, which often begin between the ages of 1 and 5, can be frequent and involve the abrupt loss of muscle control, causing the child to fall to the ground, often resulting in injury."
ESSO:Dorsolateral_Seizure
D0000509
ILAE 1989
Dorsolateral. Dorsolateral seizure patterns may be tonic or, less commonly, clonic with versive eye and head movements and speech arrest.
ESSO:Downs_Syndrome
D0000510
ESSO:Dravet_Syndrome
D0000511
Engel 2001
Dravet's Syndrome
ILAE 2010
Dravet's Syndrome
Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI),
ESSO:Drug_Induced_Seizure
D0000512
Engel 2001
Drug or other chemically induced seizures
ESSO:Dyssynergia_Cerebellaris_Myoclonia_DCM_with_Epilepsy
D0000513
ILAE 1989
Dyssynergia cerebellaris myoclonia (DCM) with epilepsy
Dyssynergia cerebellaris myoclonia (DCM) with epilepsy (Ramsay-Hunt syndrome) appears between the ages of 6 and 20 years (mean 11 years) with myoclonias or GTCS. Above all, the myoclonic syndrome is characterized by action and intention myoclonus. The GTCS are rare and sensitive to therapy. Mental deterioration, when present, is slow. Most of the neurologic manifestations are limited to cerebellar signs. In the EEG, the background activity remains normal, with generalized paroxysmal abnormalities (spikes, spike-waves, and polyspike-waves), and photosensitivity. During REM sleep, rapid polyspikes appear, localized in the central and vertex regions.
ESSO:Early-Onset_Benign_Childhood_Occipital_Epilepsy-Panayiotopoulos_Type
D0000520
Engel 2001
Early-Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos Type)
ESSO:Early_Infantile_Epileptic_Encephalopathy_EIEE
D0000514
ESSO:Early_Infantile_Epileptic_Encephalopathy_with_Suppression_Burst
D0000515
ILAE 1989
Early infantile epileptic encephalopathy with suppression burst
This syndrome, described by Ohtahara et al. (1976), is defined by very early onset, within the first few months of life, frequent tonic spasms, and suppression burst EEG pattern in both waking and sleeping states. Partial seizures may occur. Myoclonic seizures are rare. Etiology and underlying pathology are obscure. The prognosis is serious with severe psychomotor retardation and seizure intractability; often there is evolution to the West syndrome at age 4-6 months.
ESSO:Early_Myoclonic_Encephalopathy_EME
D0000516
ILAE 1989
Early myoclonic encephalopathy
The principal features of early myoclonic encephalopathy are onset occurring before age 3 months, initially fragmentary myoclonus, and then erratic partial seizures, massive myoclonias, or tonic spasms. The EEG is characterized by suppression-burst activity, which may evolve into hypsarrhythmia. The course is severe, psychomotor development is arrested, and death may occur in the first year. Familial cases are frequent and suggest the influence of one or several congenital metabolic errors, but there is no constant genetic pattern.
Engel 2001
Early Myoclonic Encephalopathy
ILAE 2010
Early Myoclonic Encephalopathy (EME)
ESSO:Early_Onset_Benign_Occipital_Epilepsy
D0000517
Engel 2001
Early Onset Benign Childhood Occipital Epilepsy - Panayiotopoulos Type
ESSO:Early_Post_Cerebral_Insult_Seizure
D0000518
Engel 2001
Immediate and early post cerebral insult seizures
ESSO:Early_Posttraumatic_Seizure
D0000519
Engel 2001
Immediate and early posttraumatic seizures
ESSO:Encephalitis
D0000524
ESSO:Epidermal_Nevus_Syndrome
D0000527
Engel 2001
Epidermal nevus syndrome
ESSO:Epilepsies_With_Grand_Mal_GTCS_Seizures_on_Awakening
D0000528
ILAE 1989
Epilepsy with GTCS on awakening is a syndrome with onset occurring mostly in the second decade of life. The GTCS occur exclusively or predominantly (>90% of the time) shortly after awakening regardless of the time of day or in a second seizure peak in the evening period of relaxation. If other seizures occur, they are mostly absence or myoclonic, as in juvenile myoclonic epilepsy. Seizures may be precipitated by sleep deprivation and other external factors. Genetic predisposition is relatively frequent. The EEG shows one of the patterns of idiopathic generalized epilepsy. There is a significant correlation with photosensitivity.
ESSO:Epilepsy_With_Continuous_Spike-Wave_During_Slow-Wave_Sleep
D0000532
ILAE 1989
Epilepsy with continuous spike-waves during slow-wave sleep
Epilepsy with continuous spike-waves during slow sleep results from the association of various seizure types, partial or generalized, occurring during sleep, and atypical absences when awake. Tonic seizures do not occur. The characteristic EEG pattern consists of continuous diffuse spike-waves during slow wave sleep, which is noted after onset of seizures. Duration varies from months to years. Despite the usually benign evolution of seizures, prognosis is guarded because of the appearance of neuropsychologic disorders.
Engel 2001
Epilepsy with continuous spike-and-waves during slow-wave sleep - Other than LKS.
ESSO:Epilepsy_of_Infancy_with_Migrating_Focal_Seizures
D0000530
ILAE 2010 Epilepsy of Infancy with Migrating Focal Seizures
ESSO:Epilepsy_with_General_Tonic_Clonic_Seizure_on_Awakening
D0000533
ESSO:Epilepsy_with_Generalized_Tonic-Clonic_Seizures_Alone
D0000534
ILAE 2010
Epilepsy with Generalized Tonic-Clonic Seizures Alone
ESSO:Epilepsy_with_Myoclonic-Astatic_Seizures
D0000536
ILAE 1989
Epilepsy with myoclonic-astatic seizures
Manifestations of myoclonic-astatic seizures begin between the ages of 7 months and 6 years (mostly between the ages of 2 and 5 years), with (except if seizures begin in the first year) twice as many boys affected. There is frequently hereditary predisposition and usually a normal developmental background. The seizures are myoclonic, astatic, myoclonic-astatic, absence with clonic and tonic components, and tonic-clonic. Status frequently occurs. Tonic seizures develop late in the course of unfavorable cases. The EEG, initially often normal except for 4-7-Hz rhythms, may have irregular fast spike-wave or polyspike wave. Course and outcome are variable.
Engel 2001
Epilepsy with Myoclonic - Astatic Seizures
ESSO:Epilepsy_with_Myoclonic_Absence
D0000535
ILAE 1989
Epilepsy with myoclonic absences
The syndrome of epilepsy with myoclonic absences is clinically characterized by absences accompanied by severe bilateral rhythmical clonic jerks, often associated with a tonic contraction. On the EEG, these clinical features are always accompanied by bilateral, synchronous, and symmetrical discharge of rhythmical spike-waves at 3 Hz, similar to childhood absence. Seizures occur many times a day. Awareness of the jerks may be maintained. Associated seizures are rare. Age of onset is -7 years, and there is a male preponderance. Prognosis is less favorable than in pyknolepsy owing to resistance to therapy of the seizures, mental deterioration, and possible evolution to other types of epilepsy such as Lennox-Gastaut syndrome.
Engel 2001
Epilepsy with myoclonic absences
ESSO:Epileptic_Encephalopathy_Associated_With_VGKC_Antibodies
D0000357
ESSO:Epileptic_Encephalopathy_with_Continuous_Spike-and-Wave_During_Sleep_CSWS
D0000538
ESSO:Familial_Focal_Epilepsy_with_Variable_Foci
D0000540
Engel 2001
Familial Focal Epilepsy with Variable Foci
Syndromes in development
ILAE 2010
Childhood to Adult
Familial Focal Epilepsy with Variable Foci
ESSO:Familial_Temporal_Lobe_Epilepsy
D0000541
Engel 2001
Familial Temporal Lobe Epilepsy
ESSO:Febrile_Convulsions
D0000542
ILAE 1989
Febrile convulsions
Febrile convulsions are an age-related disorder almost always characterized by generalized seizures occurring during an acute febrile illness. Most febrile convulsions are brief and uncomplicated, but some may be more prolonged and followed by transient or permanent neurologic sequelae, such as the hemiplegia-hemiatrophy-epilepsy(HHE) syndrome. Febrile convulsions tend to recur in about one-third of affected patients. Controversy about the risks of developing epilepsy later have largely been resolved by some recent large studies; the overall risk is probably not more than 4%. The indications for prolonged drug prophylaxis against recurrence of febrile convulsions are now more clearly defined, and most individuals do not require prophylaxis. Essentially, this condition is a relatively benign disorder of early childhood.
Engel 2001
Another change in terminology evident in this document is the omission of the words “convulsion” and “convulsive” in the list of epileptic seizure types and epilepsy syndromes. The Task Force thought that these are nonspecific lay terms, and at times improperly used. Consequently it was agreed to be consistent, not only in descriptive ictal terminology, but also in naming epileptic seizure types and syndromes, to avoid these terms. For instance, the Task Force is proposing that the term “febrile convulsions” be replaced by “febrile seizures.”
ESSO:Febrile_Infection-Related_Epilepsy_Syndrome_FIRES
D0000543
Suleiman 2013
Febrile infection-related epilepsy syndrome (van Baalen et al., 2010) or fer-induced refractory epileptic encephalopathy in school-aged children (Nabbout et al., 2010, 2011), both called fever-induced refractory epileptic encephalopathy in school-aged children (FIRES).
ESSO:Febrile_Seizures
D0000544
Engel 2001
Febrile Seizures
Another change in terminology evident in this document is the omission of the words “convulsion” and “convulsive” in the list of epileptic seizure types and epilepsy syndromes. The Task Force thought that these are nonspecific lay terms, and at times improperly used. Consequently it was agreed to be consistent, not only in descriptive ictal terminology, but also in naming epileptic seizure types and syndromes, to avoid these terms. For instance, the Task Force is proposing that the term “febrile convulsions” be replaced by “febrile seizures.”
ILAE 2010
Febrile Seizures
ESSO:Febrile_Seizures_Plus_FS
D0000545
Engel 2001
Generalized Epilepsies with Febrile Seizures Plus
Syndromes in development
ILAE 2010
Febrile Seizures Plus (FS+)
Can start in infancy
ESSO:Female
D0000546
ESSO:Fever-Induced_Refractory_Epileptic_Encephalopathy_in_School-Aged_Children_FIRES
D0000547
Suleiman 2013
Febrile infection-related epilepsy syndrome (van Baalen et al., 2010) or fer-induced refractory epileptic encephalopathy in school-aged children (Nabbout et al., 2010, 2011), both called fever-induced refractory epileptic encephalopathy in school-aged children (FIRES).
ESSO:Focal_Cortical_Dysplasia
D0000548
Engel 2001
Focal or multifocal cortical dysplasia
ESSO:Focal_Heterotopia
D0000549
Engel 2001
Focal heterotopia
ESSO:Folic_Acid_Disorder
D0000550
Engel 2001
DIsorders of folic acid and B12 metabolism
ESSO:Fragile_X_Syndrome
D0000552
Engel 2001
Fragile X syndrome
ESSO:Frontal_Lobe_Epilepsy
D0000554
ILAE 1989
Frontal lobe epilepsies
Frontal lobe epilepsies are characterized by simple partial, complex partial, secondarily generalized seizures or combinations of these. Seizures often occur several times a day and frequently occur during sleep. Frontal lobe partial seizures are sometimes mistaken for psychogenic seizures. Status epilepticus is a frequent complication.
General characteristics
Features strongly suggestive of the diagnosis include:
1. Generally short seizures.
2. Complex partial seizures arising from the frontal lobe, often with minimal or no postictal
confusion.
3. Rapid secondary generalization (more common in seizures of frontal than of temporal lobe epilepsy).
4. Prominent motor manifestations which are tonic or postural.
5. Complex gestural automatisms frequent at onset.
6. Frequent falling when the discharge is bilateral.
A number of seizure types are described below; however, multiple frontal areas may be involved rapidly and specific seizure types may not be discernible.
ESSO:Fructose_1-6_Diphosphatase_Deficiency
D0000556
Engel 2001
Fructose 1-6 diphsphatase deficiency
ESSO:Fumarase_Deficiency
D0000557
Engel 2001
Fumarase deficiency
ESSO:Gastaut_Syndrome
D0000563
ESSO:Gaucher_Disease
D0000564
ESSO:Gaucher_Disease_Juvenile_Form
D0000565
ILAE 1989
A juvenile form of Gaucher disease is marked by onset at ~6-8 years of age, with epileptic seizures of various types, most commonly GTCS or partial motor. The EEG shows progressive deterioration of background activity, abnormal photic response, diffuse paroxysmal abnormalities, and multifocal abnormalities with a clear posterior predominance.
ESSO:Gelastic_Seizures_with_Hypothalamic_Hamartoma
D0000566
ILAE 2010
Gelastic Seizures with Hypothalamic Hamartoma
ESSO:Genetic_Disease
D0000569
Scheuermann 2009
Genetic Disorder: A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism’s genome.
Scheuermann 2009
Genetic Predisposition to Disease of Type X: A predisposition to disease of type X whose physical basis is a constitutional abnormality in an organism’s genome. This abnormality is the physical basis for the increased risk of acquiring disease X.
Examples: p53 mutation in Li-Fraumeni Syndrome predisposing to cancer; ApoE alleles predisposing to Alzheimer’s disease.
ESSO:Glucose_Transport_Protein_Deficiency
D0000570
Engel 2001
Glucose transport protein deficiency
ESSO:Glycogen-Storage_Disorder
D0000571
Engel 2001
Glycogen-storage disorders
ESSO:Hemiconvulsion-Hemiplegia-Epilepsy
D0000578
ILAE 2010
Hemiconvulsion-Hemiplegia-Epilepsy
ESSO:Hemiconvulsion-Hemiplegia_Epilepsy_Syndrome
D0000577
Engel 2001
Hemiconvulsion-Hemiplegia Epilepsy (HHE) Syndrome
ESSO:Hypermelanosis_of_Ito
D0000582
ESSO:Immediate_Post_Cerebral_Insult_Seizure
D0000589
Engel 2001
Immediate and early post cerebral insult seizures
ESSO:Immediate_Posttraumatic_Seizure
D0000590
Engel 2001
Immediate and early posttraumatic seizures
ESSO:Impulsive_Petit_Mal
D0000592
ESSO:Infantile_Spasm_Cryptogenic_Group
D0000595
ESSO:Infantile_Spasm_Symptomatic_Group
D0000596
ESSO:Infantile_Spasms
D0000597
ILAE 1989
West Syndrome
Usually, West syndrome consists of a characteristic triad: infantile spasms, arrest of psychomotor development, and hypsarrhythmia, although one element may be missing. Spasms may be flexor, extensor, lightning, or nods, but most commonly they are mixed. Onset peaks between the ages of 4 and 7 months and always occurs before the age of 1 year. Boys are more commonly affected. The prognosis is generally poor. West syndrome may be separated into two groups. The symptomatic group is characterized by previous existence of brain damage signs (psychomotor retardation, neurologic signs, radiologic signs, or other types of seizures) or by a known etiology. The smaller, cryptogenic group is characterized by a lack of previous signs of brain damage and of known etiology. The prognosis appears to be partly based on early therapy with adrenocorticotropic hormone (ACTH) or oral steroids.
West syndrome
ESSO:Infectious_Disease
D0000599
Scheuermann 2009
Infectious Disorder: A disorder whose etiology includes the presence of a pathogenic
organism within a host organism or an abnormal imbalance in the normal resident organismal flora.
Infectious Disease: A disease whose physical basis is an infectious disorder.
Examples: transient: seasonal flu; chronic: genital herpes; progressive: Ebola hemorrhagic fever.
Secondary Infection =def. – A disorder consisting in the presence of a pathogenic organism within a host organism that occurs due to the disposition established by a prior infection with a pathogenic organism of a different kind (e.g. cryptosporidiosis in a patient suffering from AIDS).
ESSO:Inherited_Metabolic_Disorder
D0000604
ESSO:Isolated_Lissencephaly_Sequence
D0000609
Engel 2001
Isolated lissencephaly sequence
ESSO:Jansky_Bielschoski_Disease
D0000610
ILAE 1989
Late infantile ceroid-lipofuscinosis (Jansky Bielschowski disease) is characterized by onset between the ages of 2 and 4 years of massive myoclonic jerks, atonic, or astatic seizures. The EEG shows slow background rhythms, multifocal spikes, and a characteristic response to intermittent photic stimulation at a slow rate
ESSO:Janz_Syndrome
D0000611
ESSO:Juvenile_Absence_Epilepsy_JAE
D0000612
ILAE 1989
Juvenile Absence Epilepsy
The absences of juvenile absence epilepsy are the same as in pyknolepsy, but absences with retropulsive movements are less common. Manifestation occurs around puberty. Seizure frequency is lower than in pyknolepsy, with absences occurring less frequently than every day, mostly sporadically. Association with GTCS is frequent, and GTCS precede the absence manifestations more often than in childhood absence epilepsy, often occurring on awakening. Not infrequently, the patients also have myoclonic seizures. Sex distribution is equal. The spike-waves are often >3 Hz. Response to therapy is excellent.
Engel 2001
Juvenile Absence Epilepsy
ILAE 2010
Juvenile Absence Epilepsy
ESSO:Juvenile_Myoclonic_Epilepsy_JME
D0000613
ILAE 1989
Impulsive petit mal appears around puberty and is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks, predominantly in the arms. Jerks may cause some patients to fall suddenly. No disturbance of consciousness is noticeable. The disorder may be inherited, and sex distribution is equal. Often, there are GTCS and, less often, infrequent absences. The seizures usually occur shortly after awakening and are often precipitated by sleep deprivation. Interictal and ictal EEG have rapid, generalized, often irregular spike-waves and polyspike-waves; there is no close phase correlation between EEG spikes and jerks. Frequently, the patients are photosensitive. Response to appropriate drugs is good.
Juvenile myoclonic epilepsy is known to be subject to an elevated risk of seizures for several decades, but remissions do still occur.
Engel 2001
Juvenile Myoclonic Epilepsy
ESSO:Kojewnikows_Syndrome
D0000618
ILAE 1989
Kojewnikow’s syndrome. Two types of Kojewnikow’s syndrome are recognized, one of which is also known as Rasmussen’s syndrome and is included among the epileptic syndromes of childhood noted under symptomatic seizures. The other type represents a particular form of rolandic partial epilepsy in both adults and children and is related to a variable lesion of the motor cortex. Its principal features are (a) motor partial seizures, always well localized; (b) often late appearance of myoclonus in the same site where somatomotor seizures occur; (c) an EEG with normal background activity and a focal paroxysmal abnormality (spikes and slow waves); (d) occurrence at any age in childhood and adulthood; (e) frequently demonstrable etiology (tumor, vascular); and (f) no progressive evolution of the syndrome (clinical, electroencephalographic or psychological, except in relation to the evolution of the causal lesion). This condition may result from mitochondrialencephalopathy (MELAS).
NOTE: Anatomical origins of some epilepsies are difficult to assign to specific lobes. Such epilepsies include those with pre- and postcentral symptomatology (perirolandic seizures). Such overlap to adjacent anatomic regions also occurs in opercular epilepsy.
In frontal lobe epilepsies, the interictal scalp recordings may show (a) no abnormality; (b) sometimes background asymmetry, frontal spikes or sharp waves; or (c) sharp waves or slow waves (either unilateral or frequently bilateral or unilateral multilobar). Intracranial recordings can sometimes distinguish unilateral from bilateral involvement.
In frontal lobe seizures, various EEG patterns can accompany the initial clinical symptomatology. Uncommonly, the EEG abnormality precedes the seizure onset and then provides important localizing information, such as: (a) frontal or multilobar, often bilateral, low-amplitude fast activity, mixed spikes, rhythmic spikes, rhythmic spike waves, or rhythmic slow waves; or (b) bilateral high amplitude single sharp waves followed by diffuse flattening.
Depending on the methodology, intracranial recordings may provide additional information regarding the chronologic and spatial evolution of the discharges; localization may be difficult.
ESSO:Krabbe_Disease
D0000619
Engel 2001
Krabbe Disease
ESSO:Lactate_Metabolism_Abnormality
D0000620
ESSO:Lafora_Disease
D0000622
Engel 2001
Lafora Disease
ESSO:Lafora_disease
D0000621
Onset of Lafora disease occurs between the ages of 6 and 19 years (mean 11.5 years) and is characterized by generalized clonic, GTCS, with a frequent association of partial seizures with visual symptomatology, constant myoclonic jerks (fragmentary, segmental, and massive myoclonus), and rapidly progressive mental deterioration. The EEG shows discharges of fast spike-waves and poly- spike-waves, photosensitivity, deterioration of background activity, and the appearance of multi-focal abnormalities, particularly posteriorly. On the average, death occurs 5.5 years after onset.
ESSO:Landau-Kleffner_Syndrome_LKS
D0000623
Engel 2001
Landau-Kleffner Syndrome
ILAE 2010
Landau-Kleffner Syndrome (LKS)
Fischer 2014
continuous spike and waves during sleep and the Landau-Kleffner Syndrome
ESSO:Late-Onset_Childhood_Occipital_Epilepsy-Gastaut_Type
D0000626
Engel 2001
Late Onset Childhood Occipital Epilepsy - Gastaut Type
ILAE 2010
Late Onset Childhood Occipital Epilepsy Gastaut Type
Engel 2001
Late-Onset Childhood Occipital Epilepsy (Gastaut Type)
ESSO:Late_Infantile_Ceroid-Lipofuscinoisis
D0000843
ILAE 1989
Late infantile ceroid-lipofuscinosis (Jansky Bielschowski disease) is characterized by onset between the ages of 2 and 4 years of massive myoclonic jerks, atonic, or astatic seizures. The EEG shows slow background rhythms, multifocal spikes, and a characteristic response to intermittent photic stimulation at a slow rate
ESSO:Late_Onset_Occipital_Epilepsy
D0000625
ESSO:Lateral_Temporal_Seizures
D0000629
ILAE 1989
Lateral temporal seizures. Simple seizures characterized by auditory hallucinations or illusions or dreamy states, visual misperceptions, or language disorders in case of language dominant hemisphere focus. These may progress to complex partial seizures if propagation to mesial temporal or extratemporal structures occur. The scalp EEG shows unilateral or bilateral midtemporal or posterior temporal spikes which are most prominent in the lateral derivations.
ESSO:Left_Mesial_Temporal_Lobe_Epilepsy
D0000631
ESSO:Lennox-Gastaut_Syndrome_LGS
D0000633
ILAE 1989
Lennox-Gastaut Syndrome (LGS)
Lennox-Gastaut syndrome manifests itself in children aged 1-8 years, but appears mainly in pre-school-age children. The most common seizure types are tonic-axial, atonic, and absence seizures, but other types such as myoclonic, GTCS, or partial are frequently associated with this syndrome. Seizure frequency is high, and status epilepticus is frequent (stuporous states with myoclonias, tonic, and atonic seizures). The EEG usually has abnormal background activity, slow spike-waves <3Hz and, often, multifocal abnormalities. During sleep, bursts of fast rhythms (~10 Hz) appear. In general, there is mental retardation. Seizures are difficult to control, and the development is mostly unfavorable. In 60% of cases, the syndrome occurs in children suffering from a previous encephalopathy, but is primary in other cases.
Engel 2001
Lennox-Gastaut Syndrome
ILAE 2010
Lennox-Gastaut Syndrome (LGS)
ESSO:Limbic_Encephalitis_with_Negative_Antibodies
D0000634
Suleiman 2013
ESSO:Limbic_Epilepsy
D0000635
Engel 2001
Limbic epilepsies
ESSO:Lingual_Epilepsy
D0000636
ESSO:Male
D0000643
ESSO:Maple_Syrup_Urine_Disease
D0000645
2001 Engel
Maple syrup urine disease
ESSO:Mesial_Temporal_Lobe_Epilepsy
D0000649
ESSO:Mesial_Temporal_Lobe_Epilepsy_Defined_By_Specific_Etiology
D0000650
Engel 2001
Mesial Temporal Lobe Epilepsy defined by sepcific etiologies
ESSO:Mesial_Temporal_Lobe_Epilepsy_With_Hippocampal_Sclerosis
D0000651
Engel 2001
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
ESSO:Mesial_Temporal_Lobe_Epilepsy_with_Hippocampal_Sclerosis_MTLE_with_HS
D0000652
ILAE 2010
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
ESSO:Mesiobasal_Limbic_Seizures
D0000653
ESSO:Metabolic_Proven_or_Suspected_Inborn_Errors_of
D0000655
ESSO:Microdysgenesis
D0000656
Engel 2001
Microdysgenesis
ESSO:Migrating_Focal_Seizures_of_Infancy
D0000660
ESSO:Migrating_Partial_Seizures_Of_Early_Infancy
D0000661
Engel 2001
Migrating Partial Seizures of Early Infancy
Syndromes in development
ESSO:Migrating_Partial_Seizures_of_Epilepsy
D0000662
Engel 2001
Migrating Partial Seizures of Infancy
Syndromes in development
ESSO:Miller-Dieker_Syndrome
D0000663
Engel 2001
Miller-Dieker syndrome
ESSO:Mitochondrial_Disease
D0000644
Engel 2001
Mitochondrial diseases
ESSO:Mitochondrial_Encephalomyopathy_Lactic_Acidosis_and_Stroke-Like_Symptoms_MELAS
D0000665
Engel 2001
MELAS
ESSO:Mitochondrial_Encephalopathy_MELAS
D0000666
ESSO:Mitochondrial_Myopathy
D0000668
ILAE 1989
A Ramsay-Hunt-like syndrome can also be associated with a mitochondrial myopathy, with abnormalities of lactate and pyruvate metabolism (Fukuhara et al., 1980).
ESSO:Monogenic_Mendelian_Disease_with_Complex_Pathogenic_Mechanism
D0000669
ESSO:Motor_Cortex_Seizure
D0000670
ILAE 1989
Motor cortex. Motor cortex epilepsies are mainly characterized by simple partial seizures, and their localization depends on the side and topography of the area involved. In cases of the lower prerolandic area there may be speech arrest, vocalization or dysphasia, tonic-clonic movements of the face on the contralateral side, or swallowing. Generalization of the seizure frequently occurs. In the rolandic area, partial motor seizures without march or jacksonian seizures occur, particularly beginning in the contralateral upper extremities. In the case of seizures involving the paracentral lobule, tonic movements of the ipsilateral foot may occur as well as the expected contralateral leg movements. Postictal or Todd’s paralysis is frequent.
ESSO:Multifocal_Cortical_Dysplasia
D0000674
Engel 2001
Focal or multifocal cortical dysplasia
ESSO:Multiple_Sclerosis
D0000675
ESSO:Myasthenia_Gravis
D0000676
Suleiman 2013
ESSO:Myoclonic_Absence_Seizure
D0000677
Engel 2001
Myoclonic Absence Seizures
ESSO:Myoclonic_Astatic_Epilepsy
D0000678
Engel 2001
Epilepsy with myoclonic astatic seizures
ESSO:Myoclonic_Astatic_Petit_Mal
D0000679
ESSO:Myoclonic_Atonic_Epilepsy
D0000680
Engel 2001
Myoclonic Atonic Seizures
ILAE 2010
Myoclonic Atonic Epilepsy
ESSO:Myoclonic_Encephalopathy
D0000681
ESSO:Myoclonic_Encephalopathy_in_Nonprogressive_Disorders
D0000682
ILAE 2010
Myoclonic Encephalopathy in Nonprogressive Disorders
ESSO:Myoclonic_Epilepsy_in_Infancy_MEI
D0000683
ILAE 2010
Myoclonic Epilepsy in Infancy (MEI)
ESSO:Myoclonic_Status_In_Nonprogressive_Encephalopathies
D0000684
Engel 2001
Myoclonic Status in Nonprogressive Encephalopathies
Syndromes in development
ESSO:Myoclonus_Epilepsy_With_Ragged_Red_Fibers_MERRF
D0000685
Engel 2001
MERRF
ESSO:N-Methyl-D-Aspartate_Receptor_NMDAR_Encephalitis
D0000686
Suleiman 2013
N-methyl-D-aspartate receptor (NMDAR) encephalitis in which 76–83% of patients will have focal, focal dyscognitive, or generalized seizures (Dalmau et al., 2007, 2008, 2011; Irani & Vincent, 2011)
NMDAR encephalitis is well described (Florance et al., 2009)
ESSO:Neonatal_Seizures
D0000688
ILAE 1989
Neonatal seizures
Neonatal seizures differ from those of older children and adults. The most frequent neonatal seizures are described as subtle because the clinical manifestations are frequently overlooked. These include tonic, horizontal deviation of the eyes with or without jerking, eyelid blinking or fluttering, sucking, smacking, or other buccal-lingual oral movements, swimming or pedaling movements and, occasionally, apneic spells. Other neonatal seizures occur as tonic extension of the limbs, mimicking decerebrate or decorticate posturing. These occur particularly in premature infants. Multifocal clonic seizures characterized by clonic movements of a limb, which may migrate to other body parts or other limbs, or focal clonic seizures, which are much more localized, may occur. In the latter, the infant is usually not unconscious. Rarely, myoclonic seizures may occur, and the EEG pattern is frequently that of suppression-burst activity. The tonic seizures have a poor prognosis because they frequently accompany intraventricular hemorrhage. The myoclonic seizures also have a poor prognosis because they are frequently a part of the early myoclonic encephalopathy syndrome.
ESSO:Neuroaxonal_Dystrophy
D0000690
Engel 2001
Neuroaxonal Dystrophy
ESSO:Neurocutaneous_Disorder
D0000691
ESSO:Neurofibromatosis
D0000692
Engel 2001
Neurofibromatosis
ESSO:Neurofibromatosis_1
D0000693
Engel 2001
Neurofibromatosis
ESSO:Neurofibromatosis_2
D0000694
Engel 2001
Neurofibromatosis
ESSO:Neuronal_Surface_Antibody_Syndromes
D0000695
ESSO:Nonketotic_Hyperglycinemia
D0000697
Engel 2001
Nonketotic hyperglycinemia
ESSO:Northern_Epilepsy_Syndrome
D0000698
ESSO:Occipital_Lobe_Epilepsy
D0000700
ILAE 1989
Occipital Lobe Epilepsy
ESSO:Ohtahara_Syndrome
D0000701
Engel 2001
Ohtahara Syndrome
ILAE 2010
Ohtahara
Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early.
NOTE Ohtahara syndrome is considered an 'epileptic encephalopathy'. This term denotes the concept that the epileptic activity itself might directly contribute additional cognitive and behavioral impairments over those expected from the underlying etiology alone, and that suppression of epileptic activity might minimize this additional impairment.
ESSO:Oligoepilepsy
D0000702
Engel 2001
Oligoepilepsy
Fischer 2014
Therefore, epilepsy could be considered present if an unprovoked seizure occurred at age 1 and at age 80, a condition sometimes referred to as oligoepilepsy.
ESSO:Opercular_Seizure
D0000704
ILAE 1989
Opercular. Opercular seizure characteristics include mastication, salivation, swallowing, laryngeal symptoms, speech arrest, epigastric aura, fear, and autonomic phenomena. Simple partial seizures, particularly partial clonic facial seizures, are common and may be ipsilateral. If secondary sensory changes occur, numbness may be a symptom, particularly in the hands. Gustatory hallucinations are particularly common in this area.
ESSO:Orbitofrontal_Seizure
D0000707
ILAE 1989
Orbitofrontal. The orbitofrontal seizure pattern is one of complex partial seizures with initial motor and gestural automatisms, olfactory hallucinations and illusions, and autonomic signs.
ESSO:Other_Familial_Temporal_Lobe_Epilepsies
D0000709
ESSO:Other_Organic_Aciduria
D0000710
Engel 2001
Other organic acidurias
ESSO:Panyiotopolous_Syndrome
D0000711
ESSO:Parietal_Lobe_Epilepsy
D0000718
ILAE 1989
Parietal lobe epilepsies
Partial lobe epilepsy syndromes are usually characterized by simple partial and secondarily generalized seizures. Most seizures arising in the parietal lobe remain as simple partial seizures, but complex partial seizures may arise out of simple partial seizures and occur with spread beyond the parietal lobe. Seizures arising from the parietal lobe have the following features: Seizures are predominantly sensory with many characteristics. Positive phenomena consist of tingling and a feeling of electricity, which may be confined or may spread in a Jacksonian manner. There may be a desire to move a body part or a sensation as if a part were being moved. Muscle tone may be lost. The parts most frequently involved are those with the largest cortical representation (e.g., the hand, arm, and face). There may be tongue sensations of crawling, stiffness, or coldness, and facial sensory phenomena may occur bilaterally. Occasionally, an intraabdominal sensation of sinking, choking, or nausea may occur, particularly in cases of inferior and lateral parietal lobe involvement. Rarely, there may be pain, which may take the form of a superficial burning dysesthesia, or a vague, very severe, painful sensation. Parietal lobe visual phenomena may occur as hallucinations of a formed variety. Metamorphopsia with distortions, foreshortenings, and elongations may occur, and are more frequently observed in cases of nondominant hemisphere discharges. Negative phenomena include numbness, a feeling that a body part is absent, and a loss of awareness of a part or a half of the body, known as asomatognosia. This is particularly the case with nondominant hemisphere involvement. Severe vertigo or disorientation in space may be indicative of inferior parietal lobe seizures. Seizures in the dominant parietal lobe result in a variety of receptive or conductive languages disturbances. Some well-lateralized genital sensations may occur with paracentral involvement. Some rotatory or postural motor phenomena may occur. Seizures of the paracentral lobule have a tendency to become secondarily generalized.
ESSO:Periventricular_Nodular_Heterotopia
D0000719
Engel 2001
Periventricular nodular heterotopia
ESSO:Peroxisomal_Disorder
D0000720
Engel 2001
Peroxisomal disorders
ESSO:Phakomatoses
D0000721
ESSO:Phenylketonuria
D0000722
2001 Engel
Phenylketonuria
ESSO:Posttraumatic_Seizure
D0000732
Engel 2001
Immediate and early posttraumatic seizures
ESSO:Primary_Reading_Epilepsy
D0000741
ILAE 1989
Primary reading epilepsy
All or almost all seizures in this syndrome are precipitated by reading (especially aloud) and are independent of the content of the text. They are simple partial motor-involving masticatory muscles, or visual, and if the stimulus is not interrupted, GTCs may occur. The syndrome may be inherited. Onset is typically in late puberty and the course is benign with little tendency to spontaneous seizures. Physical examination and imaging studies are normal but EEG shows spikes or spike-waves in the dominant parieto-temporal region. Generalized spike and wave may also occur.
Engel 2001
Primary Reading Epilepsy
ESSO:Progressive_Myoclonic_Epilepsy_PME
D0000746
Engel 2001
Progressive Myoclonus Epilepsies
ILAE 2010
Progressive Myoclonus Epilepsies (PME)
ESSO:Propionic_Acidemia
D0000747
Engel 2001
Propionic acidemia
ESSO:Pyknolepsy
D0000749
ESSO:Pyridoxine_Dependency
D0000750
ILAE 1989
Pyridoxine dependency is manifested by seizures that have no suggestive characteristics, but this condition must always be suspected since therapeutic intervention is possible.
Engel 2001
Pyridoxine dependency
ESSO:Pyruvate_Dehydrogenase_Deficiency
D0000751
Engel 2001
Pyruvate dehydrogenase deficiency
ESSO:Pyruvate_Metabolism_Abnormality
D0000752
ESSO:Ramsay-Hunt_Like_Syndrome
D0000754
ILAE 1989
A Ramsay-Hunt-like syndrome can also be associated with a mitochondrial myopathy, with abnormalities of lactate and pyruvate metabolism (Fukuhara et al., 1980).
ESSO:Ramsay-Hunt_Syndrome
D0000755
ESSO:Ramsay_Hunt_Syndrome_I
D0000753
ILAE 1989
Dyssynergia cerebellaris myoclonia (DCM) with epilepsy (Ramsay-Hunt syndrome) appears between the ages of 6 and 20 years (mean 11 years) with myoclonias or GTCS. Above all, the myoclonic syndrome is characterized by action and intention myoclonus. The GTCS are rare and sensitive to therapy. Mental deterioration, when present, is slow. Most of the neurologic manifestations are limited to cerebellar signs. In the EEG, the background activity remains normal, with generalized paroxysmal abnormalities (spikes, spike-waves, and polyspike-waves), and photosensitivity. During REM sleep, rapid polyspikes appear, localized in the central and vertex regions.
ESSO:Rasmussen_Syndrome
D0000756
Engel 2001
Rasmussen Syndrome
ESSO:Rasmussens_Syndrome
D0000757
ILAE 1989
Rasmussen's Syndrome
ESSO:Reflex_Epilepsy
D0000759
Bancaud 1981
Reflex Seizure
ILAE 1989
Reflex Epilepsy
Blume 2001
Reflex: Objectively and consistently demonstrated to be evoked by a specific afferent stimulus or by activity of the patient. Afferent stimuli can be elementary [i.e., unstructured (light flashes, startle, a monotone)] or elaborate [i.e., structured, (a symphony)]. Activity may be elementary [e.g., motor (a movement)]; or elaborate [e.g., cognitive function (reading, chess playing)], or both (reading aloud).
Engel 2001
Reflex Epilepsies
Reflex epilepsy syndrome: A syndrome in which all epileptic seizures are precipitated by sensory stimuli. Reflex seizures that occur in focal and generalized epilepsy syndromes that are also associated with spontaneous seizures are listed as seizure types. Isolated reflex seizures can also occur in situations that do not necessarily require a diagnosis of epilepsy. Seizures precipitated by other special circumstances, such as fever or alcohol withdrawal, are not reflex seizures (changed concept).
ILAE 2010
Reflex Epilepsy
ESSO:Respiratory_Chain_Defect
D0000760
Engel 2001
Respiratory chain defects
ESSO:Rett_Syndrome
D0000761
Engel 2001
Rett syndrome
ESSO:Rhinoencephalic_Seizures
D0000762
ESSO:Right_Frontal_Epilepsy
D0000764
ESSO:Rolandic_Epilepsy
D0000767
ESSO:Rolandic_Partial_Epilepsy
D0000768
ILAE 1989
Rolandic Partial Epilepsy
ESSO:Sandhoff_Disease
D0000769
ILAE 1989
Tay-Sachs and Sandhoff disease present with acoustic startle or myoclonus in the first months of life, without EEG manifestations. In the second year, myoclonic jerks and erratic partial seizures occur, along with marked slowing of the background rhythms.
ESSO:Sanfilippo_Syndrome
D0000770
Engel 2001
Sanfilippo syndrome
ESSO:Schizencephaly
D0000771
Engel 2001
Schizencephalies
ESSO:Severe_Myoclonic_Epilepsy_in_Infancy
D0000778
ILAE 1989
Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy is a recently defined syndrome. The characteristics include a family history of epilepsy or febrile convulsions, normal development before onset, seizures beginning during the first year of life in the form of generalized or unilateral febrile clonic seizures, secondary appearance of myoclonic jerks, and often partial seizures. EEGs show generalized spike-waves and polyspike-waves, early photosensitivity, and focal abnormalities. Psychomotor development is retarded from the second year of life on, and ataxia, pyramidal signs, and interictal myoclonus appear. This type of epilepsy is very resistant to all forms of treatment.
ESSO:Sex
D0000779
By most appropriate genetic designation (e.g. XX, XY, etc).
ESSO:Sialidosis
D0000780
Engel 2001
Sialidosis
ESSO:Sialidosis_with_Isolated_Deficit_in_Neuroamidinase
D0000781
The clinical picture for the cherry red spot myoclonus syndrome (sialidosis with isolated deficit in neuraminidase) is very similar to that of the Ramsay-Hunt syndrome, with myoclonus, photosensitivity, and cerebellar syndrome. Other characteristics include the nearly constant existence of amblyopia and presence of a cherry red spot on fundoscopic examination. The EEG is similar to that of DCM with the following specific features: The polyspike-wave discharges always correspond to a massive myoclonus and there is no photosensitivity
ESSO:Sturge-Weber_Syndrome
D0000797
ILAE 1989
The individual phacomatoses have no typical electroclinical pattern. We emphasize that West syndrome is frequent in tuberous sclerosis, and that generalized and partial seizures may follow the otherwise typical course of infantile spasms. Sturge-Weber syndrome is a frequent cause of simple partial seizures followed by hemiparesis.
Engel 2001
Sturge-Weber syndrome
ESSO:Subcortical_Band_Heterotopia
D0000792
Engel 2001
Subcortical band heterotopia
ESSO:Sulphite-Oxidase_Deficiency
D0000793
Engel 2001
Sulphite-Oxidase Deficiency
ESSO:Supplementary_Motor_Seizures
D0000800
ILAE 1989
Supplementary motor seizures. In supplementary motor seizures, the seizure patterns are postural, focal tonic, with vocalization, speech arrest, and fencing postures.
ESSO:Sylvian_Seizures
D0000803
ESSO:Systemic_Lupus_Erythematosus
D0000804
ESSO:Tay-Sachs_Disease
D0000806
ILAE 1989
Tay-Sachs and Sandhoff disease present with acoustic startle or myoclonus in the first months of life, without EEG manifestations. In the second year, myoclonic jerks and erratic partial seizures occur, along with marked slowing of the background rhythms.
ESSO:Temporal_Lobe_Epilepsy
D0000810
1989 ILAE
Temporal Lobe Epilepsy
Temporal lobe syndromes are characterized by simple partial seizures, complex partial seizures, and secondarily generalized seizures, or combinations of these. Frequently, there is a history of febrile seizures, and a family history of seizures is common. Memory deficits may occur. On metabolic imaging studies, hypometabolism is frequently observed [e.g., positron emission tomography (PET)]. Unilateral or bilateral temporal lobe spikes are common on EEG. Onset is frequently in childhood or young adulthood. Seizures occur in clusters at intervals or randomly.
General characteristics
Features strongly suggestive of the diagnosis when present include:
1. Simple partial seizures typically characterized by autonomic and/or psychic symptoms and certain sensory phenomena such as olfactory and auditory (including illusions). Most common is an epigastric, often rising, sensation.
2. Complex partial seizures often but not always beginning with motor arrest typically followed by oroalimentary automatism. Other automatisms frequently follow. The duration is typically >1 min. Postictal confusion usually occurs. The attacks are followed by amnesia. Recovery is gradual.
Electroencephalographic characteristics
In temporal lobe epilepsies the interictal scalp EEG may show the following:
1. No abnormality.
2. Slight or marked asymmetry of the background activity.
3. Temporal spikes, sharp waves and/or slow waves, unilateral or bilateral, synchronous but also asynchronous. These findings are not always confined to the temporal region.
4. In addition to scalp EEG findings, intracranial recordings may allow better definition of the intracranial distribution of the interictal abnormalities.
In temporal lobe epilepsies various EEG patterns may accompany the initial clinical ictal symptomatology, including (a) a unilateral or bilateral interruption of background activity; and (b) temporal or multilobar low-amplitude fast activity, rhythmic spikes, or rhythmic slow waves. The onset of the EEG may not correlate with the clinical onset depending on methodology. Intracranial recordings may provide additional information regarding the chronologic and spatial evolution of the discharges.
ESSO:Tuberous_Sclerosis_Complex
D0000814
Engel 2001
Tuberous sclerosis complex
ESSO:Typical_Absence_Epilepsy
D0000815
ESSO:Unclassified_Epilepsy_Syndrome
D0000838
Bancaud 1981
This category includes all seizures that cannot be classified because of inadequate or incomplete data and includes some seizures that by their natures defy classification in the previously defined broad categories. Many seizures occurring in the infant (e.g., rhythmic eye movements, chewing, swimming movements, jittering, and apnea) will be classified here until such time as further experience with video-tape confirmation and electroencephalographic characterization entitles them to subtyping in the extant classification.
D0000816
ESSO:Unilateral_Polymicrogyria
D0000817
Engel 2001
Unilateral polymicrogyria
ESSO:Unverricht-Lundborg_Disease
D0000819
Engel 2001
Unverricht-Lundborg Disease
ESSO:Urea_Cycle_Disorder
D0000837
Engel 2001
Urea Cycle Disorders
ESSO:Voltage_Gated_Potassium_Channel_VGKC_Encephalitis
D0000825
Suleiman 2013
Voltage-gated potassium channel (VGKC)-complex antibody associated autoimmune limbic encephalitis (including leucine rich glioma inactivated 1 [LGI1] and contactin-associated protein-like 2 [CASPR2] antibodies) in which patients often have temporal lobe seizures (Irani et al., 2010; Lai et al., 2010)
ESSO:West_Syndrome
D0000836
ILAE 1989
West Syndrome
Usually, West syndrome consists of a characteristic triad: infantile spasms, arrest of psychomotor development, and hypsarrhythmia, although one element may be missing. Spasms may be flexor, extensor, lightning, or nods, but most commonly they are mixed. Onset peaks between the ages of 4 and 7 months and always occurs before the age of 1 year. Boys are more commonly affected. The prognosis is generally poor. West syndrome may be separated into two groups. The symptomatic group is characterized by previous existence of brain damage signs (psychomotor retardation, neurologic signs, radiologic signs, or other types of seizures) or by a known etiology. The smaller, cryptogenic group is characterized by a lack of previous signs of brain damage and of known etiology. The prognosis appears to be partly based on early therapy with adrenocorticotropic hormone (ACTH) or oral steroids.
Engel 2001
West Syndrome
ILAE 2010
West Syndrome
ESSO:X-Linked_Lissencephaly
D0000830
Engel 2001
X-linked lissencephaly
ESSO:current_adolescent_12_18_yrs
D0000355
Bancaud 1981
Puberty
SIGN 2005
Berg 2010
Blume 2001
Berg 2010
ESSO:current_adult_19_to_60_yrs
D0000356
Bancaud 1981
Adult Life
ESSO:current_child_1_to_11_yrs
D0000479
Bancaud 1981
Childhood
Blume 2001
Berg 2010
ESSO:current_elderly_greater_than_60_yrs
D0000523
Blume 2003
Berg 2010
ESSO:current_infant_1_to_12_months
D0000594
Blume 2001
Berg 2010
ESSO:current_neonate_birth_to_1_month
D0000689
Berg 2010
<= 1Month or 44 weeks gestation
ESSO:disease
D0000501
Scheuermann 2009
Disease
A disposition
(i) to undergo pathological processes that
(ii) exists in an organism because of one or more disorders in that organism.
Diseases as dispositions rooted in physical disorders in the organism and realized in pathological processes.
(1) to the existence of pre-clinical manifestations of disease (disorders can exist before they are realized in overt pathological processes);
(2) to the combinations of disease and predispositions to disease which can exist within a single patient (as when an instance of disease of type A in a given patient is a risk factor for
a second disease of type B); and
(3) to the fact that the disease course and the clinical picture may vary widely between patients who have the same disease.
Disorder
A causally relatively isolated combination of physical components that is
(a) clinically abnormal and
(b) maximal, in the sense that it is not a part of some larger such combination.
Such disorders are the physical basis of disease. A disease comes into existence because some physical component becomes malformed.
ESSO:epidemiologic_factor
D0000526
ESSO:epilepsy_syndrome
D0000841
This is a list of epilepsy syndromes (cited epilepsy syndromes 1989-2014)
ILAE 1989
An epileptic syndrome is an epileptic disorder characterized by a cluster of signs and symptoms customarily occurring together; these include such items as type of seizure, etiology, anatomy, precipitating factors, age of onset, severity, chronicity, diurnal and circadian cycling, and sometimes prognosis. However, in contradistinction to a disease, a syndrome does not necessarily have a common etiology and prognosis.
Engel 2006
Epilepsy syndrome: A complex of signs and symptoms that define a unique epilepsy condition with different etiologies. This must involve more than just the seizure type; thus frontal lobe seizures per se, for instance, do not constitute a syndrome (changed concept).
Fischer 2014
epilepsy syndrome
D0000361
D0000362
D0000573
Suleiman 2013
Graves’ disease is an antibody mediated autoimmune disorder and juvenile myoclonic epilepsy (JME) has been previously associated with Grave’s disease, and may be due to thyroxine causing a lower seizure threshold (Su et al., 1993). Our case 11 was diagnosed to have an idiopathic myoclonic epilepsy (JME) based on her age, seizure phenotype, and EEG abnormality. JME is considered to be a genetic epilepsy, and indeed in this case there was limited evidence that the epilepsy was autoimmune despite the presence of other autoimmune diseases, and her classification was “unknown” as she was negative for NSAbs and received no immunotherapy.
D0000575
Suleiman 2013
Seizures can occur in Hashimoto’s encephalopathy, which is a rare association of autoimmune Hashimoto’s thyroiditis associated with Abs against thyroid peroxidase and thyroglobulin (Castillo et al., 2006). Patients described with Hashimoto encephalopathy present with broad clinical manifestations and are classically reported to be steroid responsive. The role of thyroid antibodies in Hashimoto encephalopathy is uncertain, and the term “steroid responsive encephalopathy associated with autoimmune thyroiditis” (SREAT) has been used to reflect the hypothesis that Hashimoto encephalopathy may be caused by unidentified neuronal autoantibodies (Castillo et al., 2002; Schauble et al., 2003).
D0000580
Engel 2001
Huntington disease
D0000581
ILAE 1989
An infantile type of Huntington’s disease appears after age 3 years, with a slowing of mental development, followed by dystonia, GTCS, atypical absence seizures, and myoclonic seizures. The EEG shows discharges of generalized spike-waves and polyspike-waves, with the usual photic stimulation rate.
Engel 2001
Huntington disease
D0000647
Engel 2001
Menkes' Disease
C0000000