]>
James Malone
Annie Olry
Drashtti Vasant
Marc Hanauer
Ana Rath
Date: 9th January, 2015.
2.0
curator_inference
manual_assertion
part_of
Disease-causing germline mutation(s) in
A gene mutation in a germ cell that is sufficient to produce the disorder and that can be passed on to offspring.
Disease-causing somatic mutation(s) in
A gene mutation in a somatic cell that is sufficient to produce the disorder but that cannot be passed on to offspring.
Major susceptibility factor in
A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder.
Modifying germline mutation in
A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring.
Modifying somatic mutation in
A gene mutation in a somatic cell that modifies the clinical presentation of the disorder and that cannot be passed on to offspring.
Part of a fusion gene in
A gene that has fusioned with a promotor and/or other coding DNA sequences from a different gene.
Role in the phenotype of
A gene included in a chromosomal rearrangement of which the mutation results in a phenotype related to the given chromosomal rearrangement, therefore proving its influence in a particular manifestation.
Candidate gene tested in
A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, and that is tested for in a clinical setting.
Disease-causing germline mutation(s) (loss of function) in
A gene mutation in a germ cell that impairs the function of the corresponding protein and that is sufficient to produce the disorder and that can be passed on to offspring.
Disease-causing germline mutation(s) (gain of function) in
A gene mutation in a germ cell that provides a new function of the corresponding protein and that is sufficient to produce the disorder and that can be passed on to offspring.
has_inheritance
Relation between a phenome and its mode(s) of inheritance.
has_AgeOfOnset
Relation between a phenome and its range(s) of age of onset
has_annual_incidence_range
present_in
Relation between a phenome and the georaphical area where it has been observed.
has_point_prevalence_range
has_prevalence_at_birth_range
has_lifetime_prevalence_range
has_point_prevalence_average_value
has_birth_prevalence_average_value
has_lifetime_prevalence_average_value
has_annual_incidence_average_value
has_chromosomal_location
obsolete_class
48,XXYY syndrome
1.9
ICD-10:Q98.8
MeSH:D007713
MedDRA:10048230
The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.
UMLS:C2936741
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10048230
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D007713
Validated
1.9
Attributed
UMLS:C2936741
ICD-10:Q98.8
NTBT (narrower term maps to a broader term)
Ataxia-telangiectasia
10.0
1.7
0.4
ICD-10:G11.3
Louis-Bar syndrome
MeSH:D001260
MedDRA:10003594
OMIM:208900
OMIM:208910
UMLS:C0004135
ICD-10:G11.3
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:208910
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D001260
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0004135
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10003594
Not yet validated
10.0
E (exact mapping (the terms and the concepts are equivalent))
OMIM:208900
Not yet validated
Not yet validated
1.7
Not yet validated
0.4
Ocular albinism with late-onset sensorineural deafness
ICD-10:E70.3
MeSH:C537043
OMIM:300650
Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome.
UMLS:C1845069
orphanet
ICD-10:E70.3
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537043
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1845069
E (exact mapping (the terms and the concepts are equivalent))
OMIM:300650
Validated
Reticular perineurioma
Sclerosing perineurioma
Extraneural perineurioma
Soft tissu perineurioma
Intraneural perineurioma
UMLS:C1370658
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1370658
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
HCHWA, Dutch type
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.
ICD-10:E85.4+
ICD-10:I68.0*
MeSH:C537944
MeSH:D028243
OMIM:605714
UMLS:C0268394
UMLS:C2931672
orphanet
Validated
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D028243
Attributed
UMLS:C0268394
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:E85.4+
ICD-10:I68.0*
NTBT (narrower term maps to a broader term)
MeSH:C537944
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605714
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931672
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
Hereditary cystatin C amyloid angiopathy
ICD-10:E85.4+
ICD-10:I68.0*
OMIM:105150
orphanet
Attributed
ICD-10:I68.0*
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:105150
ICD-10:E85.4+
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type A
ICD-10:Q04.3
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type B
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.
orphanet
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type C
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
orphanet
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type D
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia (LCH; see this term) characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
orphanet
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type E
ICD-10:Q04.3
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type F
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia (LCH; see this term), characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
orphanet
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Refractory anemia with excess blasts type 1
ICD-10:D46.2
RAEB-1
UMLS:C1318550
ICD-10:D46.2
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1318550
Refractory anemia with excess blasts type 2
ICD-10:D46.2
RAEB-2
UMLS:C1318551
Attributed
UMLS:C1318551
ICD-10:D46.2
NTBT (narrower term maps to a broader term)
Primary plasmacytoma of the bone
ICD-10:C90.2
ICD-10:C90.2
NTBT (narrower term maps to a broader term)
Extramedullary soft tissue plasmacytoma
ICD-10:C90.2
ICD-10:C90.2
NTBT (narrower term maps to a broader term)
Mu heavy-chain disease
ICD-10:C88.2
Mu-heavy chain disease (mu-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL; see this term).
mu-HCD
orphanet
ICD-10:C88.2
NTBT (narrower term maps to a broader term)
Validated
Alpha heavy-chain disease
Alpha-HCD
Alpha-heavy chain disease (alpha-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID; see this term). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
ICD-10:C88.3
IPSID
Immunoproliferative small intestinal disease
Mediterranean lymphoma
orphanet
ICD-10:C88.3
NTBT (narrower term maps to a broader term)
Gamma heavy-chain disease
Franklin disease
Gamma-HCD
Gamma-heavy chain disease (gamma-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
ICD-10:C88.2
orphanet
Validated
ICD-10:C88.2
NTBT (narrower term maps to a broader term)
Hypoplastic amelogenesis imperfecta
Amelogenesis imperfecta type 1
ICD-10:K00.5
OMIM:104500
OMIM:104530
OMIM:204650
OMIM:301201
BTNT (broader term maps to a narrower term)
OMIM:204650
BTNT (broader term maps to a narrower term)
OMIM:301201
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:104530
BTNT (broader term maps to a narrower term)
OMIM:104500
Hypocalcified amelogenesis imperfecta
Amelogenesis imperfecta type 3
ICD-10:K00.5
OMIM:130900
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:130900
Hypomaturation amelogenesis imperfecta
Amelogenesis imperfecta type 2
ICD-10:K00.5
MeSH:C536606
OMIM:204700
OMIM:301200
OMIM:612529
OMIM:613211
OMIM:614832
OMIM:615887
UMLS:C0399372
BTNT (broader term maps to a narrower term)
OMIM:204700
BTNT (broader term maps to a narrower term)
OMIM:301200
Attributed
UMLS:C0399372
BTNT (broader term maps to a narrower term)
OMIM:613211
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536606
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:612529
BTNT (broader term maps to a narrower term)
OMIM:614832
BTNT (broader term maps to a narrower term)
OMIM:615887
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Amelogenesis imperfecta type 4
ICD-10:K00.5
OMIM:104510
UMLS:C0399373
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:104510
Attributed
UMLS:C0399373
Solitary necrotic tumor of the liver
ICD-10:D13.4
Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.
orphanet
ICD-10:D13.4
NTBT (narrower term maps to a broader term)
Familial pseudohyperkalemia type 1
This class is deprecated. The preferred class is use http://www.orpha.net/ORDO/Orphanet_3202 with label: Dehydrated hereditary stomatocytosis
Familial pseudohyperkalemia type 2
use http://www.orpha.net/ORDO/Orphanet_90044 with label: Familial pseudohyperkalemia
Familial pseudohyperkalemia, Cardiff type
use http://www.orpha.net/ORDO/Orphanet_90044 with label: Familial pseudohyperkalemia
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
CMTDIA
ICD-10:G60.0
OMIM:606483
E (exact mapping (the terms and the concepts are equivalent))
OMIM:606483
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
CMTDIB
ICD-10:G60.0
OMIM:606482
E (exact mapping (the terms and the concepts are equivalent))
OMIM:606482
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
CMTDIC
ICD-10:G60.0
OMIM:608323
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608323
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
CMTDID
ICD-10:G60.0
OMIM:607791
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607791
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Esophageal duplication cyst
ICD-10:Q39.8
ICD-10:Q39.8
NTBT (narrower term maps to a broader term)
Tubular duplication of the esophagus
ICD-10:Q39.8
Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children.
orphanet
ICD-10:Q39.8
NTBT (narrower term maps to a broader term)
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.
orphanet
Hereditary angioedema type 1
HAE-I
Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioneurotic edema type 1
ICD-10:D84.1
MeSH:C538577
OMIM:106100
UMLS:C0398775
UMLS:C2717906
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:106100
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2717906
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C538577
ICD-10:D84.1
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C0398775
Hereditary angioedema type 2
HAE 2
HAE-II
Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioneurotic edema type 2
ICD-10:D84.1
OMIM:106100
UMLS:C0398776
UMLS:C1862892
orphanet
NTBT (narrower term maps to a broader term)
OMIM:106100
Attributed
UMLS:C0398776
ICD-10:D84.1
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1862892
Hereditary angioedema type 3
HAE 3
HAE-III
Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Hereditary angioneurotic edema type 3
ICD-10:D84.1
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioedema
Inherited estrogen-dependent angioneurotic edema
MeSH:D056828
OMIM:610618
UMLS:C1857728
UMLS:C1960459
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D056828
ICD-10:D84.1
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1857728
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1960459
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610618
Acquired angioedema type 2
AAE 2
AAE II
Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Acquired angioneurotic edema type 2
ICD-10:T78.3
orphanet
ICD-10:T78.3
NTBT (narrower term maps to a broader term)
Acquired angioedema type 1
Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Acquired angioneurotic edema type 1
ICD-10:T78.3
orphanet
ICD-10:T78.3
NTBT (narrower term maps to a broader term)
Renin-angiotensin-aldosterone system-blocker-induced angioedema
ICD-10:T78.3
OMIM:300909
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
orphanet
Attributed
OMIM:300909
ICD-10:T78.3
NTBT (narrower term maps to a broader term)
Waterhouse-Friderichsen syndrome
ICD-10:A39.1+
ICD-10:E35.1*
MeSH:D014884
MedDRA:10047847
UMLS:C0043068
ICD-10:E35.1*
Specific code (The term has its own code in the ICD10)
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0043068
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:A39.1+
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D014884
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10047847
Semantic dementia
ICD-10:G31.0
Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
Semantic primary progressive aphasia
Semantic variant PPA
UMLS:C0338462
orphanet
ICD-10:G31.0
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C0338462
Progressive non-fluent aphasia
2.5
0.7
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
ICD-10:G31.0
MeSH:D057178
MedDRA:10029542
Non-fluent variant PPA
OMIM:607485
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
UMLS:C0751706
orphanet
Validated
2.5
Attributed
UMLS:C0751706
ICD-10:G31.0
NTBT (narrower term maps to a broader term)
NTBT (narrower term maps to a broader term)
OMIM:607485
Not yet validated
0.7
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D057178
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10029542
Mosaic trisomy 3
ICD-10:Q92.1
ICD-10:Q92.1
NTBT (narrower term maps to a broader term)
True vascular thoracic outlet syndrome
use http://www.orpha.net/ORDO/Orphanet_357107 with label: Arterial thoracic outlet syndrome
Neurogenic thoracic outlet syndrome
ICD-10:G54.0
NTOS
Neurogenic TOS
Neurogenic cervical rib syndrome
Neurogenic costoclavicular syndrome
Neurogenic thoracic outlet compression syndrome
Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.
orphanet
ICD-10:G54.0
NTBT (narrower term maps to a broader term)
Gastric endocrine tumor
Duodenal endocrine tumor
Jejunal endocrine tumor
Ileal endocrine tumor
Endocrine tumor of the appendix
Appendiceal endocrine tumor
Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).
orphanet
Colon endocrine tumor
Rectal endocrine tumor
Anal endocrine tumor
Laryngeal endocrine tumor
Middle ear endocrine tumor
Primary hepatic neuroendocrine carcinoma
0.2
Primary hepatic carcinoid tumor
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor (see this term), characterized by abdominal pain or discomfort-like fullness, as well as diarrhea or weight loss. More than 10% cases are asymptomatic and in rare cases a carcinoid syndrome (see this term) may be observed.
orphanet
Validated
0.2
Gallbladder endocrine tumor
ICD-10:C23
ICD-10:C23
NTBT (narrower term maps to a broader term)
Thyroid tumor
3.2
5.35
5.7
5.0
ICD-10:C73
ICD-10:D34
ICD-10:D44.0
ICD-10:D34
Specific code (The term has its own code in the ICD10)
Not yet validated
5.0
Not yet validated
5.7
BTNT (broader term maps to a narrower term)
ICD-10:D44.0
Not yet validated
5.35
BTNT (broader term maps to a narrower term)
ICD-10:C73
Not yet validated
3.2
Thyroid carcinoma
61.7
12.7
3.65
3.9
3.1
12.2
ICD-10:C73
MedDRA:10007476
UMLS:C0549473
Validated
3.1
Attributed
UMLS:C0549473
Not yet validated
3.65
Validated
12.7
ICD-10:C73
NTBT (narrower term maps to a broader term)
Validated
12.2
Validated
61.7
Not yet validated
3.9
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10007476
Rare parathyroid tumor
ICD-10:C75.0
ICD-10:D35.1
ICD-10:D44.2
ICD-10:D35.1
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:C75.0
BTNT (broader term maps to a narrower term)
ICD-10:D44.2
Adrenal/paraganglial tumor
ICD-10:C74
ICD-10:D35.0
ICD-10:D44.1
BTNT (broader term maps to a narrower term)
ICD-10:C74
ICD-10:D35.0
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D44.1
Gastroenteropancreatic endocrine tumor
GEP-NET
Gastroenteropancreatic neuroendocrine tumor
Carcinoid tumor and carcinoid syndrome
ICD-10:E34.0
OMIM:114900
E (exact mapping (the terms and the concepts are equivalent))
OMIM:114900
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:E34.0
Multiple polyglandular tumor
ICD-10:D44.8
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:D44.8
2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability
Del(2)(q37)
Deletion 2q37
Deletion 2q37-qter
ICD-10:Q93.5
MeSH:C538317
Monosomy 2q37-qter
OMIM:600430
UMLS:C2931817
ICD-10:Q93.5
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931817
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600430
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C538317
Thymic tumor
Endocrine tumor with other location
Scalp defects - postaxial polydactyly
ICD-10:Q87.2
MeSH:C536622
OMIM:181250
UMLS:C1867021
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:181250
ICD-10:Q87.2
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536622
Attributed
UMLS:C1867021
Alopecia-contractures-dwarfism-intellectual disability syndrome
ICD-10:Q87.8
MeSH:C537051
OMIM:203550
UMLS:C0795895
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537051
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:203550
Validated
Attributed
UMLS:C0795895
Alopecia antibody deficiency
Alopecia - epilepsy - pyorrhea - intellectual disability
Alopecia - epilepsy - pyorrhea - mental subnormality
MeSH:C537057
OMIM:104130
Shokeir syndrome
UMLS:C1863090
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537057
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1863090
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:104130
Porphyria due to ALA dehydratase deficiency
ALAD porphyria
ICD-10:E80.2
OMIM:612740
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
Not yet validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:612740
ICD-10:E80.2
NTBT (narrower term maps to a broader term)
Nuclear oculomotor paralysis
FRAXE intellectual disability
Intellectual disability associated with fragile site FRAXE
OMIM:309548
E (exact mapping (the terms and the concepts are equivalent))
OMIM:309548
Not yet validated
FRAXF syndrome
Bathing suit ichthyosis
BSI
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.
ICD-10:Q80.2
OMIM:242300
orphanet
Validated
NTBT (narrower term maps to a broader term)
OMIM:242300
ICD-10:Q80.2
NTBT (narrower term maps to a broader term)
Cloverleaf skull - asphyxiating thoracic dysplasia
Benallegue-Lacete syndrome
ICD-10:Q87.5
ICD-10:Q87.5
NTBT (narrower term maps to a broader term)
Autosomal dominant complex spastic paraplegia
1.0
Autosomal dominant complex HSP
Autosomal dominant complex SPG
Autosomal dominant complicated HSP
Autosomal dominant complicated SPG
Autosomal dominant complicated spastic paraplegia
ICD-10:G11.4
Not yet validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Not yet validated
1.0
Autosomal dominant pure spastic paraplegia
4.4
0.9
Autosomal dominant pure HSP
Autosomal dominant pure SPG
Autosomal dominant uncomplicated HSP
Autosomal dominant uncomplicated SPG
Autosomal dominant uncomplicated spastic paraplegia
ICD-10:G11.4
Not yet validated
Not yet validated
4.4
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Not yet validated
0.9
Autosomal recessive complex spastic paraplegia
Autosomal recessive complex HSP
Autosomal recessive complex SPG
Autosomal recessive complicated HSP
Autosomal recessive complicated SPG
Autosomal recessive complicated spastic paraplegia
ICD-10:G11.4
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive pure spastic paraplegia
Autosomal recessive pure HSP
Autosomal recessive pure SPG
Autosomal recessive uncomplicated HSP
Autosomal recessive uncomplicated SPG
Autosomal recessive uncomplicated spastic paraplegia
ICD-10:G11.4
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal dominant spastic paraplegia type 3
0.14
ICD-10:G11.4
MeSH:C536864
OMIM:182600
Strümpell disease
UMLS:C2931355
E (exact mapping (the terms and the concepts are equivalent))
OMIM:182600
Not yet validated
0.14
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931355
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536864
Autosomal dominant spastic paraplegia type 4
0.91
ICD-10:G11.4
MeSH:C536865
OMIM:182601
SPG4
UMLS:C1866855
E (exact mapping (the terms and the concepts are equivalent))
OMIM:182601
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Not yet validated
0.91
Attributed
UMLS:C1866855
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536865
Autosomal recessive spastic paraplegia type 5A
ICD-10:G11.4
MeSH:C536871
OMIM:270800
SPG5A
UMLS:C2931356
Not yet validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C2931356
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536871
E (exact mapping (the terms and the concepts are equivalent))
OMIM:270800
Autosomal dominant spastic paraplegia type 6
Autosomal dominant familial spastic paraplegia type 3
ICD-10:G11.4
MeSH:C536866
OMIM:600363
SPG6
UMLS:C1838192
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536866
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1838192
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600363
Autosomal dominant spastic paraplegia type 8
ICD-10:G11.4
MeSH:C536867
OMIM:603563
SPG8
UMLS:C1863704
Attributed
UMLS:C1863704
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536867
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:603563
Autosomal dominant spastic paraplegia type 9
Cataracts motor neuropathy - short stature - skeletal anomalies
ICD-10:G11.4
MeSH:C536868
OMIM:601162
SPG9
Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux
UMLS:C1832669
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1832669
Validated
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536868
E (exact mapping (the terms and the concepts are equivalent))
OMIM:601162
Autosomal dominant spastic paraplegia type 10
ICD-10:G11.4
MeSH:C537482
OMIM:604187
SPG10
UMLS:C1858712
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537482
E (exact mapping (the terms and the concepts are equivalent))
OMIM:604187
Attributed
UMLS:C1858712
Validated
Autosomal dominant spastic paraplegia type 12
ICD-10:G11.4
MeSH:C537484
OMIM:604805
SPG12
UMLS:C1858106
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Validated
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537484
Attributed
UMLS:C1858106
E (exact mapping (the terms and the concepts are equivalent))
OMIM:604805
Autosomal dominant spastic paraplegia type 13
ICD-10:G11.4
MeSH:C537485
OMIM:605280
SPG13
UMLS:C1854467
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537485
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605280
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1854467
Autosomal recessive spastic paraplegia type 14
ICD-10:G11.4
MeSH:C537486
OMIM:605229
SPG14
UMLS:C1854568
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Validated
Attributed
UMLS:C1854568
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537486
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605229
Autosomal recessive spastic paraplegia type 15
Hereditary spastic paraparesis type 15
ICD-10:G11.4
Kjellin syndrome
MeSH:C536642
OMIM:270700
SPG15
Spastic paraplegia - retinal degeneration
UMLS:C1849128
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:270700
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1849128
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536642
X-linked spastic paraplegia type 16
ICD-10:G11.4
MeSH:C536643
OMIM:300266
SPG16
UMLS:C1846046
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:300266
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536643
Attributed
UMLS:C1846046
Validated
Autosomal dominant spastic paraplegia type 17
Distal hereditary motor neuropathy type 5B
ICD-10:G11.4
OMIM:270685
SPG17
Silver Syndrome
Spastic paraplegia-amyotrophy of hands and feet
dHMN5B
E (exact mapping (the terms and the concepts are equivalent))
OMIM:270685
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Validated
Autosomal dominant spastic paraplegia type 19
ICD-10:G11.4
MeSH:C536856
OMIM:607152
SPG19
UMLS:C1846685
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536856
Attributed
UMLS:C1846685
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607152
Dentatorubral pallidoluysian atrophy
0.48
0.71
DRPLA
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.
Dentatorubropallidoluysian atrophy
ICD-10:G11
Naito-Oyanagi disease
OMIM:125370
UMLS:C0751781
orphanet
Attributed
UMLS:C0751781
ICD-10:G11
NTBT (narrower term maps to a broader term)
Not yet validated
0.71
Not yet validated
Validated
0.48
E (exact mapping (the terms and the concepts are equivalent))
OMIM:125370
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
ICD-10:Q82.8
OMIM:104100
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:104100
ICD-10:Q82.8
NTBT (narrower term maps to a broader term)
Validated
Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis - distal muscle wasting
ICD-10:G11.4
OMIM:275900
SPG20
Troyer syndrome
E (exact mapping (the terms and the concepts are equivalent))
OMIM:275900
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive spastic paraplegia type 21
ICD-10:G11.4
Mast syndrome
OMIM:248900
SPG21
E (exact mapping (the terms and the concepts are equivalent))
OMIM:248900
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive spastic paraplegia type 23
ICD-10:G11.4
Lison syndrome
OMIM:270750
SPG23
Spastic paraparesis - vitiligo - premature graying - characteristic facies
Validated
Attributed
OMIM:270750
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive spastic paraplegia type 24
ICD-10:G11.4
OMIM:607584
SPG24
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607584
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia - disc herniation
ICD-10:G11.4
MeSH:C536861
OMIM:608220
SPG25
UMLS:C2936860
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536861
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608220
Validated
Attributed
UMLS:C2936860
Autosomal recessive spastic paraplegia type 26
GM2 synthase deficiency
ICD-10:G11.4
MeSH:C536862
OMIM:609195
SPG26
UMLS:C1836632
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536862
Attributed
UMLS:C1836632
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609195
Validated
Autosomal recessive spastic paraplegia type 27
ICD-10:G11.4
OMIM:609041
SPG27
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609041
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive spastic paraplegia type 28
ICD-10:G11.4
OMIM:609340
SPG28
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609340
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Validated
Autosomal dominant spastic paraplegia type 29
ICD-10:G11.4
MeSH:C536863
OMIM:609727
SPG29
UMLS:C1857855
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609727
Attributed
UMLS:C1857855
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536863
Autosomal recessive spastic paraplegia type 30
ICD-10:G11.4
OMIM:610357
SPG30
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610357
Autosomal dominant spastic paraplegia type 31
ICD-10:G11.4
OMIM:610250
SPG31
UMLS:C1853247
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1853247
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610250
Romano-Ward syndrome
40.0
ICD-10:I45.8
MeSH:D029597
MedDRA:10039211
OMIM:192500
OMIM:600919
OMIM:603830
OMIM:611818
OMIM:611819
OMIM:611820
OMIM:612955
OMIM:613485
OMIM:613688
OMIM:613693
OMIM:613695
Romano-Ward long QT syndrome
UMLS:C0035828
BTNT (broader term maps to a narrower term)
OMIM:613485
BTNT (broader term maps to a narrower term)
OMIM:613688
BTNT (broader term maps to a narrower term)
OMIM:611819
Attributed
UMLS:C0035828
E (exact mapping (the terms and the concepts are equivalent))
OMIM:192500
ICD-10:I45.8
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:613695
Validated
40.0
BTNT (broader term maps to a narrower term)
OMIM:613693
BTNT (broader term maps to a narrower term)
OMIM:612955
BTNT (broader term maps to a narrower term)
OMIM:611820
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D029597
BTNT (broader term maps to a narrower term)
OMIM:600919
BTNT (broader term maps to a narrower term)
OMIM:603830
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10039211
BTNT (broader term maps to a narrower term)
OMIM:611818
Mediterranean macrothrombocytopenia
ICD-10:D69.1
OMIM:210250
UMLS:C0272281
Attributed
UMLS:C0272281
ICD-10:D69.1
NTBT (narrower term maps to a broader term)
NTBT (narrower term maps to a broader term)
OMIM:210250
Cleft hard palate
ICD-10:Q35.1
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q35.1
Transaldolase deficiency
ICD-10:E74.8
OMIM:606003
TALDO
UMLS:C1291329
ICD-10:E74.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:606003
Validated
Attributed
UMLS:C1291329
Sub-cortical nodular heterotopia
ICD-10:Q04.8
ICD-10:Q04.8
NTBT (narrower term maps to a broader term)
Subependymal nodular heterotopia
ICD-10:Q04.8
MedDRA:10071150
UMLS:C3160906
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10071150
Attributed
UMLS:C3160906
ICD-10:Q04.8
NTBT (narrower term maps to a broader term)
Peters anomaly - cataract
ICD-10:Q13.3
MeSH:C537885
UMLS:C2931652
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537885
ICD-10:Q13.3
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C2931652
Zlotogura-Martinez syndrome
use http://www.orpha.net/ORDO/Orphanet_320317 with label: Cleft lip/palate - ectodermal dysplasia
Female restricted epilepsy with intellectual disability
EFMR
Familial epilepsy and mental retardation limited to females
Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance.
OMIM:300088
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:300088
Familial hypofibrinogenemia
ICD-10:D68.2
OMIM:202400
NTBT (narrower term maps to a broader term)
OMIM:202400
ICD-10:D68.2
NTBT (narrower term maps to a broader term)
Taussig-Bing syndrome
ICD-10:Q20.1
ICD-10:Q20.1
NTBT (narrower term maps to a broader term)
Aortic valve dysplasia
ICD-10:Q23.0
UMLS:C0344993
Attributed
UMLS:C0344993
ICD-10:Q23.0
NTBT (narrower term maps to a broader term)
Autosomal dominant epilepsy with auditory features
ADEAF
ADLTE
ADPEAF
Autosomal dominant lateral temporal lobe epilepsy
OMIM:600512
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600512
Familial hypocalciuric hypercalcemia type 2
FHH type 2
ICD-10:E83.5
MeSH:C537146
OMIM:145981
UMLS:C2931427
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537146
Attributed
UMLS:C2931427
E (exact mapping (the terms and the concepts are equivalent))
OMIM:145981
ICD-10:E83.5
NTBT (narrower term maps to a broader term)
Familial hypocalciuric hypercalcemia type 3
FHH type 3
ICD-10:E83.5
MeSH:C537147
OMIM:600740
UMLS:C1833372
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600740
ICD-10:E83.5
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1833372
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537147
Microlissencephaly type B
ICD-10:Q04.3
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Situs inversus totalis
Complete situs inversus
Complete situs inversus viscerum
ICD-10:Q89.3
Situs inversus
ICD-10:Q89.3
NTBT (narrower term maps to a broader term)
Congenital stromal corneal dystrophy
CSCD
Congenital hereditary stromal dystrophy
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
ICD-10:H18.5
OMIM:610048
Witschel dystrophy
orphanet
ICD-10:H18.5
NTBT (narrower term maps to a broader term)
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610048
Bilateral frontoparietal polymicrogyria
ICD-10:Q04.3
OMIM:606854
E (exact mapping (the terms and the concepts are equivalent))
OMIM:606854
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Unilateral hemispheric polymicrogyria
ICD-10:Q04.3
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
X-linked Charcot-Marie-Tooth disease type 1
CMT1X
CMTX1
ICD-10:G60.0
MeSH:C535919
OMIM:302800
UMLS:C0393808
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C535919
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C0393808
E (exact mapping (the terms and the concepts are equivalent))
OMIM:302800
X-linked Charcot-Marie-Tooth disease type 2
CMT2X
CMTX2
ICD-10:G60.0
OMIM:302801
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:302801
X-linked Charcot-Marie-Tooth disease type 3
CMT3X
CMTX3
ICD-10:G60.0
OMIM:302802
E (exact mapping (the terms and the concepts are equivalent))
OMIM:302802
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
X-linked Charcot-Marie-Tooth disease type 4
CMT4X
CMTX4
Cowchock syndrome
ICD-10:G60.0
OMIM:310490
Attributed
OMIM:310490
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Validated
Charcot-Marie-Tooth disease type 1A
82.37
15.2
CMT1A
ICD-10:G60.0
Microduplication 17p12
OMIM:118220
UMLS:C0270911
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C0270911
Not yet validated
15.2
E (exact mapping (the terms and the concepts are equivalent))
OMIM:118220
Not yet validated
82.37
Charcot-Marie-Tooth disease type 1B
CMT1B
ICD-10:G60.0
OMIM:118200
UMLS:C0270912
Attributed
UMLS:C0270912
E (exact mapping (the terms and the concepts are equivalent))
OMIM:118200
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Charcot-Marie-Tooth disease type 1C
CMT1C
ICD-10:G60.0
MeSH:C537984
OMIM:601098
UMLS:C0270913
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537984
Not yet validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:601098
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C0270913
Charcot-Marie-Tooth disease type 1D
CMT1D
ICD-10:G60.0
MeSH:C537985
OMIM:607678
UMLS:C1843247
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607678
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537985
Attributed
UMLS:C1843247
Charcot-Marie-Tooth disease type 1F
CMT1F
ICD-10:G60.0
OMIM:607734
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Attributed
OMIM:607734
X-linked hyper-IgM syndrome
HIGM1
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome type 1
ICD-10:D80.5
OMIM:308230
XHIGM
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:308230
Hyper-IgM syndrome type 2
AID deficiency
Activation-induced cytidine deaminase deficiency
HIGM2
ICD-10:D80.5
OMIM:605258
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605258
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
Hyper-IgM syndrome type 3
HIGM3
Hyper-IgM syndrome due to CD40 deficiency
ICD-10:D80.5
OMIM:606843
E (exact mapping (the terms and the concepts are equivalent))
OMIM:606843
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
Hyper-IgM syndrome type 4
HIGM4
ICD-10:D80.5
OMIM:608184
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608184
Hyper-IgM syndrome type 5
HIGM5
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
ICD-10:D80.5
OMIM:608106
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608106
Aregenerative anemia
ICD-10:D46.7
MedDRA:10054329
UMLS:C0553669
Attributed
UMLS:C0553669
ICD-10:D46.7
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10054329
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
ICD-10:G60.0
OMIM:607706
OMIM:607831
BTNT (broader term maps to a narrower term)
OMIM:607831
BTNT (broader term maps to a narrower term)
OMIM:607706
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Alopecia - hypogonadism - extrapyramidal disorder
This class is deprecated. The preferred class is use http://www.orpha.net/ORDO/Orphanet_3464 with label: Woodhouse-Sakati syndrome
Charcot-Marie-Tooth disease type 2B2
AR-CMT2B2
Autosomal recessive axonal CMT4C3
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
ICD-10:G60.0
MeSH:C537991
OMIM:605589
UMLS:C1854150
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Validated
Attributed
UMLS:C1854150
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537991
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605589
Charcot-Marie-Tooth disease type 2H
AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
ICD-10:G60.0
MeSH:C535415
OMIM:607731
UMLS:C1843173
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607731
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1843173
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C535415
Validated
Marin-Amat syndrome
ICD-10:Q07.8
ICD-10:Q07.8
NTBT (narrower term maps to a broader term)
Non-secreting chemodectoma
Spinocerebellar ataxia type 22
This class is deprecated. The preferred class is use http://www.orpha.net/ORDO/Orphanet_98772 with label: Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 23
ICD-10:G11
MeSH:C537201
OMIM:610245
SCA23
Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.
UMLS:C1853250
orphanet
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610245
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537201
ICD-10:G11
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1853250
Spinocerebellar ataxia type 28
ICD-10:G11
MeSH:C537205
OMIM:610246
SCA28
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
UMLS:C1853249
orphanet
Attributed
UMLS:C1853249
ICD-10:G11
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610246
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537205
Spinocerebellar ataxia type 20
ICD-10:G11
MeSH:C537199
OMIM:608687
SCA20
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.
UMLS:C1837541
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537199
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608687
Validated
ICD-10:G11
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C1837541
Spinocerebellar ataxia type 25
ICD-10:G11
MeSH:C537202
OMIM:608703
SCA25
Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
UMLS:C1837518
orphanet
Validated
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537202
ICD-10:G11
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608703
Attributed
UMLS:C1837518
Spinocerebellar ataxia type 26
ICD-10:G11
MeSH:C537203
OMIM:609306
SCA26
Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
UMLS:C1836395
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609306
Attributed
UMLS:C1836395
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537203
ICD-10:G11
NTBT (narrower term maps to a broader term)
Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy.
DYT5b
ICD-10:G24.1
OMIM:605407
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
orphanet
Validated
ICD-10:G24.1
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605407
Dystonia 14
This class is deprecated. The preferred class is use http://www.orpha.net/ORDO/Orphanet_98808 with label: Autosomal dominant dopa-responsive dystonia
Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus
APV/ADA, Fallot type
Absence of pulmonary valve - Fallot's tetralogy - absence of ductus arteriosus
ICD-10:Q22.2
PVA/ADA, Fallot type
ICD-10:Q22.2
NTBT (narrower term maps to a broader term)
Porphyria cutanea tarda
10.0
0.6
1.0
4.0
ICD-10:E80.1
MeSH:D017119
MedDRA:10036183
OMIM:176090
OMIM:176100
PCT
UMLS:C0162566
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:E80.1
Not yet validated
1.0
BTNT (broader term maps to a narrower term)
OMIM:176090
Validated
0.6
Validated
4.0
Specific code (The term has its own code in the ICD10)
UMLS:C0162566
BTNT (broader term maps to a narrower term)
OMIM:176100
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10036183
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D017119
Not yet validated
10.0
African tick typhus
ICD-10:A77.1
ICD-10:A77.1
NTBT (narrower term maps to a broader term)
Indian tick typhus
ICD-10:A77.1
ICD-10:A77.1
NTBT (narrower term maps to a broader term)
Kenya tick typhus
ICD-10:A77.1
Kenya tick-bite fever
ICD-10:A77.1
NTBT (narrower term maps to a broader term)
Marseilles fever
ICD-10:A77.1
ICD-10:A77.1
NTBT (narrower term maps to a broader term)
Mediterranean spotted fever
ICD-10:A77.1
ICD-10:A77.1
NTBT (narrower term maps to a broader term)
Familial isolated congenital asplenia
ICD-10:Q89.0
OMIM:271400
ICD-10:Q89.0
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:271400
Alopecia - intellectual disability - hypergonadotropic hypogonadism
Devriendt-Vandenberghe-Fryns syndrome
OMIM:601217
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:601217
Rare urogenital disease
Rare genetic eye disease
Rare genetic ophthalmologic disease
Rare intellectual disability without developmental anomaly
Rare non-syndromic intellectual deficiency
X-linked diffuse leiomyomatosis - Alport syndrome
ICD-10:Q87.8
OMIM:150700
OMIM:308940
Xq22.3 microdeletion syndrome
BTNT (broader term maps to a narrower term)
OMIM:150700
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:308940
Epstein syndrome
This class is deprecated. The preferred class is use http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related disease
Anomaly of the mitral subvalvular apparatus
ICD-10:Q23.8
ICD-10:Q23.8
NTBT (narrower term maps to a broader term)
Genetic cardiac rhythm disease
Rare gastroesophageal disease
Rare pancreatic disease
Rare vascular liver disease
Rare parenchymatous liver disease
Rare metabolic liver disease
MedDRA:10019689
UMLS:C0851734
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10019689
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0851734
Rare biliary tract disease
Rare hepatic and biliary tract tumor
Rare pulmonary disease
Rare bronchopulmonary tumor
Rare acquired eye disease
Rare eye tumor
Rare diabetes mellitus
Rare dyslipidemia
ICD-10:E78.0
ICD-10:E78.1
ICD-10:E78.2
ICD-10:E78.3
ICD-10:E78.4
ICD-10:E78.5
ICD-10:E78.6
ICD-10:E78.8
ICD-10:E78.9
BTNT (broader term maps to a narrower term)
ICD-10:E78.0
BTNT (broader term maps to a narrower term)
ICD-10:E78.6
BTNT (broader term maps to a narrower term)
ICD-10:E78.2
BTNT (broader term maps to a narrower term)
ICD-10:E78.4
ICD-10:E78.8
Specific code (The term has its own code in the ICD10)
ICD-10:E78.3
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:E78.9
ICD-10:E78.1
Specific code (The term has its own code in the ICD10)
ICD-10:E78.5
Specific code (The term has its own code in the ICD10)
Rare adrenal disease
Rare thyroid disease
Polyendocrinopathy
ICD-10:E31.0
ICD-10:E31.1
ICD-10:E31.8
ICD-10:E31.9
BTNT (broader term maps to a narrower term)
ICD-10:E31.0
BTNT (broader term maps to a narrower term)
ICD-10:E31.8
ICD-10:E31.9
Specific code (The term has its own code in the ICD10)
ICD-10:E31.1
Specific code (The term has its own code in the ICD10)
Pituitary deficiency
ICD-10:E23
ICD-10:E23
NTBT (narrower term maps to a broader term)
Primary adrenal insufficiency
MedDRA:10052381
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10052381
Chronic primary adrenal insufficiency
14.0
0.4
CPAI
Chronic adrenocorticoid insufficiency
Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
orphanet
Validated
14.0
Validated
0.4
Genetic chronic primary adrenal insufficiency
Acquired chronic primary adrenal insufficiency
Combined T and B cell immunodeficiency
ICD-10:D81.0
ICD-10:D81.1
ICD-10:D81.2
ICD-10:D81.3
ICD-10:D81.4
ICD-10:D81.5
ICD-10:D81.6
ICD-10:D81.7
ICD-10:D81.8
ICD-10:D81.9
ICD-10:D81.3
Specific code (The term has its own code in the ICD10)
ICD-10:D81.7
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D81.8
BTNT (broader term maps to a narrower term)
ICD-10:D81.0
ICD-10:D81.9
Specific code (The term has its own code in the ICD10)
ICD-10:D81.1
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D81.2
BTNT (broader term maps to a narrower term)
ICD-10:D81.4
ICD-10:D81.5
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D81.6
Immunodeficiency predominantly affecting antibody production
ICD-10:D80.0
ICD-10:D80.1
ICD-10:D80.2
ICD-10:D80.3
ICD-10:D80.4
ICD-10:D80.5
ICD-10:D80.6
ICD-10:D80.7
ICD-10:D80.8
ICD-10:D80.9
ICD-10:D80.5
Specific code (The term has its own code in the ICD10)
ICD-10:D80.9
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D80.0
BTNT (broader term maps to a narrower term)
ICD-10:D80.8
BTNT (broader term maps to a narrower term)
ICD-10:D80.2
ICD-10:D80.7
Specific code (The term has its own code in the ICD10)
ICD-10:D80.1
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D80.6
ICD-10:D80.3
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D80.4
Constitutional neutropenia
ICD-10:D70
ICD-10:D70
NTBT (narrower term maps to a broader term)
Primary immunodeficiency due to a defect in innate immunity
Immunodeficiency due to a complement cascade protein anomaly
ICD-10:D84.1
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:D84.1
Periodic fever syndrome
ICD-10:E85.0
MedDRA:10034533
UMLS:C0015974
ICD-10:E85.0
NTBT (narrower term maps to a broader term)
Index term
UMLS:C0015974
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10034533
Primary immunodeficiency
2.0
4.9
4.69
1.38
1.84
1.79
2.6
5.6
3.6
1.33
1.1
6.8
MedDRA:10064859
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10064859
Not yet validated
Not yet validated
1.79
Not yet validated
2.6
Not yet validated
1.33
Not yet validated
1.1
Not yet validated
4.9
Not yet validated
2.0
Not yet validated
6.8
Not yet validated
4.69
Not yet validated
1.84
Not yet validated
3.6
Not yet validated
5.6
Not yet validated
1.38
Rare epilepsy
ICD-10:G40.0
ICD-10:G40.1
ICD-10:G40.2
ICD-10:G40.3
ICD-10:G40.4
ICD-10:G40.5
ICD-10:G40.6
ICD-10:G40.7
ICD-10:G40.8
ICD-10:G40.9
Attributed
ICD-10:G40.5
ICD-10:G40.0
NTBT (narrower term maps to a broader term)
ICD-10:G40.4
NTBT (narrower term maps to a broader term)
Attributed
ICD-10:G40.7
Attributed
ICD-10:G40.3
ICD-10:G40.8
NTBT (narrower term maps to a broader term)
ICD-10:G40.6
NTBT (narrower term maps to a broader term)
Attributed
ICD-10:G40.1
ICD-10:G40.2
NTBT (narrower term maps to a broader term)
Attributed
ICD-10:G40.9
Multiple system atrophy
3.4
1.8
2.3
1.9
0.11
0.7
3.7
13.0
2.1
0.6
4.9
3.5
4.4
ICD-10:G90.3
MSA
MeSH:D019578
MedDRA:10064060
Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
Multisystem atrophy
OMIM:146500
UMLS:C0393571
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:146500
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10064060
Validated
3.5
Not yet validated
2.3
Not yet validated
2.1
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:G90.3
Validated
1.8
Specific code (The term has its own code in the ICD10)
UMLS:C0393571
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D019578
Not yet validated
4.9
Not yet validated
13.0
Not yet validated
3.7
Not yet validated
3.4
Not yet validated
0.7
Not yet validated
4.4
Not yet validated
1.9
Not yet validated
0.11
Not yet validated
0.6
Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
ICD-10:G30.0
OMIM:104300
OMIM:104310
OMIM:602096
OMIM:605055
OMIM:605526
OMIM:606187
OMIM:606889
OMIM:607116
OMIM:607822
OMIM:608907
OMIM:609636
OMIM:609790
OMIM:611073
OMIM:611152
OMIM:611154
OMIM:611155
orphanet
ICD-10:G30.0
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:611073
BTNT (broader term maps to a narrower term)
OMIM:611152
BTNT (broader term maps to a narrower term)
OMIM:104310
BTNT (broader term maps to a narrower term)
OMIM:609636
BTNT (broader term maps to a narrower term)
OMIM:607822
NTBT (narrower term maps to a broader term)
OMIM:104300
BTNT (broader term maps to a narrower term)
OMIM:611155
BTNT (broader term maps to a narrower term)
OMIM:607116
BTNT (broader term maps to a narrower term)
OMIM:611154
BTNT (broader term maps to a narrower term)
OMIM:609790
BTNT (broader term maps to a narrower term)
OMIM:605055
BTNT (broader term maps to a narrower term)
OMIM:606889
BTNT (broader term maps to a narrower term)
OMIM:608907
Not yet validated
BTNT (broader term maps to a narrower term)
OMIM:602096
BTNT (broader term maps to a narrower term)
OMIM:605526
BTNT (broader term maps to a narrower term)
OMIM:606187
Medullar disease
Rare ataxia
Rare movement disorder
Brain inflammatory disease
Neurovascular malformation
Classic lissencephaly
ICD-10:Q04.3
Lissencephaly type 1
UMLS:C0431375
UMLS:C1843916
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Inclusion term (The term is included under a ICD10 category and has not its own code)
UMLS:C0431375
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1843916
Other syndrome with lissencephaly as a major feature
ICD-10:Q04.3
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly type 3
ICD-10:Q04.3
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Pure hereditary spastic paraplegia
ICD-10:G11.4
Pure HSP
Pure SPG
Pure familial spastic paraplegia
UMLS:C0393555
Uncomplicated HSP
Uncomplicated SPG
Uncomplicated familial spastic paraplegia
Uncomplicated hereditary spastic paraplegia
Attributed
UMLS:C0393555
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Complex hereditary spastic paraplegia
Complex HSP
Complex SPG
Complex familial spastic paraplegia
Complicated HSP
Complicated SPG
Complicated familial spastic paraplegia
Complicated hereditary spastic paraplegia
ICD-10:G11.4
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal dominant limb-girdle muscular dystrophy
ICD-10:G71.0
ICD-10:G71.0
NTBT (narrower term maps to a broader term)
Autosomal recessive limb-girdle muscular dystrophy
ICD-10:G71.0
UMLS:C2931907
Attributed
UMLS:C2931907
ICD-10:G71.0
NTBT (narrower term maps to a broader term)
Autosomal monosomy
Autosomal deletion
ICD-10:Q93.0
ICD-10:Q93.1
ICD-10:Q93.2
ICD-10:Q93.3
ICD-10:Q93.4
ICD-10:Q93.5
ICD-10:Q93.6
ICD-10:Q93.7
ICD-10:Q93.8
ICD-10:Q93.9
BTNT (broader term maps to a narrower term)
ICD-10:Q93.8
BTNT (broader term maps to a narrower term)
ICD-10:Q93.0
ICD-10:Q93.1
Specific code (The term has its own code in the ICD10)
ICD-10:Q93.3
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:Q93.4
ICD-10:Q93.9
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:Q93.2
ICD-10:Q93.5
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:Q93.6
ICD-10:Q93.7
Specific code (The term has its own code in the ICD10)
Rickettsial disease
Rickettsiae disease
Spotted fever rickettsiosis
ICD-10:A77.0
ICD-10:A77.1
ICD-10:A77.2
ICD-10:A77.3
ICD-10:A77.8
ICD-10:A77.9
Spotted fever rickettsiae disease
BTNT (broader term maps to a narrower term)
ICD-10:A77.8
BTNT (broader term maps to a narrower term)
ICD-10:A77.0
ICD-10:A77.9
Specific code (The term has its own code in the ICD10)
ICD-10:A77.1
Specific code (The term has its own code in the ICD10)
ICD-10:A77.3
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:A77.2
Typhus-group rickettsiosis
ICD-10:A75.0
ICD-10:A75.1
ICD-10:A75.2
ICD-10:A75.3
ICD-10:A75.9
Typhus-group rickettsiae disease
UMLS:C0343758
ICD-10:A75.1
Specific code (The term has its own code in the ICD10)
Specific code (The term has its own code in the ICD10)
UMLS:C0343758
BTNT (broader term maps to a narrower term)
ICD-10:A75.9
BTNT (broader term maps to a narrower term)
ICD-10:A75.0
BTNT (broader term maps to a narrower term)
ICD-10:A75.2
ICD-10:A75.3
Specific code (The term has its own code in the ICD10)
HHV-8 related disorders
Human herpesvirus 8 infection
Hepatic amyloidosis with intrahepatic cholestasis
Cholestatic hepatic amyloidosis
ICD-10:E85.4
Validated
ICD-10:E85.4
NTBT (narrower term maps to a broader term)
Amaurosis - hypertrichosis
MeSH:C536604
OMIM:204110
UMLS:C1857588
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536604
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1857588
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:204110
Unexplained periodic fever syndrome
ICD-10:E85.0
ICD-10:E85.0
NTBT (narrower term maps to a broader term)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
MCA/MR
Multiple congenital anomalies-intellectual disability with or without dysmorphism
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability
MCA/variable MR
Multiple congenital anomalies - variable intellectual disability with or without dysmorphism
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
MCA
Multiple congenital anomalies without intellectual disability (with or without dysmorphism)
Congenital generalized hypertrichosis, Ambras type
Ambras syndrome
Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
ICD-10:Q84.2
MeSH:C536605
OMIM:145701
orphanet
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:145701
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536605
ICD-10:Q84.2
NTBT (narrower term maps to a broader term)
Rare intellectual disability with developmental anomaly
Syndromic intellectual disability
Syndromic mental deficiency
Primary glomerular disease
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
ICD-10:C92.0
ICD-10:C92.0
NTBT (narrower term maps to a broader term)
Autosomal recessive amelia
ICD-10:Q73.0
OMIM:601360
Validated
ICD-10:Q73.0
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:601360
'Acute myeloid leukemia with t(8;21)(q22;q22) translocation'
ICD-10:C92.7
ICD-10:C92.7
NTBT (narrower term maps to a broader term)
Amelo-onycho-hypohidrotic syndrome
ICD-10:Q82.4
MeSH:C538245
OMIM:104570
UMLS:C1863006
Attributed
UMLS:C1863006
E (exact mapping (the terms and the concepts are equivalent))
OMIM:104570
ICD-10:Q82.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C538245
Genetic optic atrophy
Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss.
ICD-10:H47.2
orphanet
ICD-10:H47.2
NTBT (narrower term maps to a broader term)
Validated
Amelogenesis imperfecta - nephrocalcinosis
Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.
ICD-10:K00.5
MeSH:C538241
OMIM:204690
UMLS:C0403549
UMLS:C2931783
orphanet
Validated
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931783
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C538241
Attributed
UMLS:C0403549
E (exact mapping (the terms and the concepts are equivalent))
OMIM:204690
Hyperdibasic aminoaciduria type 1
ICD-10:E72.0
OMIM:222690
ICD-10:E72.0
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:222690
Amniotic bands
2.5
8.9
ADAM syndrome
Amniotic deformity - adhesion - mutilation syndrome
ICD-10:Q79.8
MeSH:D000652
UMLS:C1527388
Not yet validated
8.9
Validated
Attributed
UMLS:C1527388
ICD-10:Q79.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D000652
Validated
2.5
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Ampola syndrome
ICD-10:E72.1
OMIM:249650
ICD-10:E72.1
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:249650
Arthrogryposis multiplex congenita
33.3
8.3
5.7
AMC
Amyoplasia congenita
Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders.
Arthromyodysplasia congenita
Congenital amyoplasia
Congenital arthromyodysplasia
ICD-10:Q74.3
MeSH:C536613
MedDRA:10051643
Multiple congenital arthrogryposis
Myodysplasia
OMIM:108110
UMLS:C2931264
orphanet
Validated
5.7
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536613
E (exact mapping (the terms and the concepts are equivalent))
OMIM:108110
Not yet validated
Specific code (The term has its own code in the ICD10)
UMLS:C2931264
Not yet validated
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q74.3
Not yet validated
33.3
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10051643
Not yet validated
8.3
Chronic diarrhea due to glucoamylase deficiency
ICD-10:E74.3
Maltase-glucoamylase deficiency
ICD-10:E74.3
NTBT (narrower term maps to a broader term)
Congenital sodium diarrhea
ICD-10:P78.3
Na-H exchange deficiency
OMIM:270420
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:270420
ICD-10:P78.3
NTBT (narrower term maps to a broader term)
Diarrhea-vomiting due to trehalase deficiency
7700.0
ICD-10:E74.3
Isolated trehalose intolerance
OMIM:612119
E (exact mapping (the terms and the concepts are equivalent))
OMIM:612119
ICD-10:E74.3
NTBT (narrower term maps to a broader term)
Validated
7700.0
Congenital enterocyte heparan sulfate deficiency
ICD-10:P78.3
Validated
ICD-10:P78.3
NTBT (narrower term maps to a broader term)
Epithelio-exfoliative colitis - deafness
ICD-10:P78.3
Validated
ICD-10:P78.3
NTBT (narrower term maps to a broader term)
Immunoproliferative small intestinal disease
use http://www.orpha.net/ORDO/Orphanet_100025 with label: Alpha heavy-chain disease
Autoimmune enteropathy type 2
ICD-10:K52.8
ICD-10:K52.8
NTBT (narrower term maps to a broader term)
Autoimmune enteropathy type 3
ICD-10:K52.8
ICD-10:K52.8
NTBT (narrower term maps to a broader term)
Tropical pancreatitis
ICD-10:K86.1
OMIM:608189
TCP
Tropical calcific chronic pancreatitis
Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608189
ICD-10:K86.1
NTBT (narrower term maps to a broader term)
Autoimmune pancreatitis
AIP
Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP (see this term) which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP (see this term) which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.
ICD-10:K86.1
MedDRA:10069002
UMLS:C2609129
orphanet
Attributed
UMLS:C2609129
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10069002
ICD-10:K86.1
NTBT (narrower term maps to a broader term)
Undetermined colitis
ICD-10:K52.3
Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohns disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.
orphanet
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:K52.3
Leber hereditary optic neuropathy
4.3
3.22
2.6
1.5
2.0
ICD-10:H47.2
LHON
Leber optic atrophy
Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
OMIM:308905
OMIM:535000
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:535000
Not yet validated
1.5
Not yet validated
2.6
Validated
4.3
Not yet validated
2.0
ICD-10:H47.2
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:308905
Not yet validated
3.22
Metaphyseal anadysplasia
ICD-10:Q78.5
Maroteaux-Verloes-Stanescu syndrome
MeSH:C537351
Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia that is characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that are associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolve by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
OMIM:602111
OMIM:613073
Regressive metaphyseal dysplasia
UMLS:C0432226
orphanet
Validated
BTNT (broader term maps to a narrower term)
OMIM:613073
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537351
Attributed
UMLS:C0432226
NTBT (narrower term maps to a broader term)
OMIM:602111
ICD-10:Q78.5
NTBT (narrower term maps to a broader term)
Congenital intestinal transport defect
Intestinal disease due to vitamin absorption anomaly
Intestinal disease due to fat malabsorption
Congenital intestinal disease due to an enzymatic defect
Congenital enteropathy involving intestinal mucosa development
Short bowel syndrome
3.4
MeSH:D012778
MedDRA:10049416
Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.
UMLS:C0036992
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10049416
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D012778
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0036992
Validated
3.4
Congenital intestinal motility disorder
Intestinal polyposis syndrome
MeSH:D044483
MedDRA:10057018
UMLS:C0345891
UMLS:C1257915
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10057018
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D044483
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1257915
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0345891
Intestinal tumor
Rare inflammatory bowel disease
Metabolic disease with intestinal involvement
Small bowel adenocarcinoma
ICD-10:D01.4
Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.
orphanet
ICD-10:D01.4
NTBT (narrower term maps to a broader term)
Small bowel leiomyosarcoma
ICD-10:C17
Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.
orphanet
ICD-10:C17
NTBT (narrower term maps to a broader term)
Myopathic intestinal pseudoobstruction
ICD-10:K59.8
ICD-10:K59.8
NTBT (narrower term maps to a broader term)
Unclassified intestinal pseudoobstruction
ICD-10:K59.8
ICD-10:K59.8
NTBT (narrower term maps to a broader term)
Hydrops fetalis
180.0
134.0
380.0
Fetal anasarca
Fetal hydrops
Generalized fetal edema
HF
Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF) (see these terms), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).
ICD-10:P56.0
ICD-10:P56.9
ICD-10:P83.2
MeSH:D015160
MedDRA:10020529
OMIM:236750
UMLS:C0020305
orphanet
Not yet validated
380.0
BTNT (broader term maps to a narrower term)
ICD-10:P56.0
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10020529
Specific code (The term has its own code in the ICD10)
UMLS:C0020305
MeSH:D015160
Specific code (The term has its own code in the ICD10)
Not yet validated
180.0
ICD-10:P56.9
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:P83.2
BTNT (broader term maps to a narrower term)
OMIM:236750
Not yet validated
134.0
Anemia due to adenosine triphosphatase deficiency
ICD-10:D55.3
OMIM:102800
ICD-10:D55.3
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:102800
Lethal hemolytic anemia - genital anomalies
ICD-10:D58.8
OMIM:600461
Water-West syndrome
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600461
ICD-10:D58.8
NTBT (narrower term maps to a broader term)
Sideroblastic anemia
ICD-10:D64.0
ICD-10:D64.1
ICD-10:D64.2
ICD-10:D64.3
MeSH:D000756
MedDRA:10040661
Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).
UMLS:C0002896
orphanet
ICD-10:D64.1
Specific code (The term has its own code in the ICD10)
BTNT (broader term maps to a narrower term)
ICD-10:D64.0
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D000756
ICD-10:D64.3
Specific code (The term has its own code in the ICD10)
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10040661
BTNT (broader term maps to a narrower term)
ICD-10:D64.2
BTNT (broader term maps to a narrower term)
UMLS:C0002896
Isolated anencephaly/exencephaly
210.0
35.0
120.0
26.0
58.0
20.6
ICD-10:Q00.0
OMIM:206500
Not yet validated
120.0
Not yet validated
58.0
Validated
Not yet validated
210.0
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q00.0
E (exact mapping (the terms and the concepts are equivalent))
OMIM:206500
Validated
20.6
Not yet validated
26.0
Validated
35.0
Atresia of urethra
ICD-10:Q64.3
MedDRA:10064895
UMLS:C0345345
UMLS:C1610065
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1610065
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10064895
Specific code (The term has its own code in the ICD10)
UMLS:C0345345
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q64.3
Ramos-Arroyo syndrome
Corneal anesthesia - deafness - intellectual disability
ICD-10:Q87.8
OMIM:122430
Ramos-Arroyo syndrome (RAS) is a very rare, genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.
orphanet
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Validated
Attributed
OMIM:122430
Mosaic variegated aneuploidy syndrome
ICD-10:Q99.8
MeSH:C536987
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
OMIM:257300
OMIM:614114
UMLS:C1850343
Warburton-Anyane-Yeboa syndrome
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536987
ICD-10:Q99.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:257300
BTNT (broader term maps to a narrower term)
OMIM:614114
Validated
Attributed
UMLS:C1850343
Vein of Galen aneurysm
ICD-10:Q28.2
MeSH:C536535
UMLS:C0431420
Vein of Galen arteriovenous malformations
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536535
ICD-10:Q28.2
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C0431420
Aneurysm of sinus of Valsalva
ICD-10:Q25.4
ICD-10:Q25.4
NTBT (narrower term maps to a broader term)
Intracranial aneurysms - multiple congenital anomalies
use http://www.orpha.net/ORDO/Orphanet_285014 with label: Rare disease with thoracic aortic aneurysm and aortic dissection
Blue rubber bleb nevus
Bean syndrome
ICD-10:Q27.8
MeSH:C536240
OMIM:112200
UMLS:C0346072
E (exact mapping (the terms and the concepts are equivalent))
OMIM:112200
ICD-10:Q27.8
NTBT (narrower term maps to a broader term)
Attributed
UMLS:C0346072
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536240
Systemic cystic angiomatosis - Seip syndrome
This class is deprecated. The preferred class is use http://www.orpha.net/ORDO/Orphanet_528 with label: Berardinelli-Seip congenital lipodystrophy
Hereditary neurocutaneous angioma
ICD-10:D18.0
MeSH:C536364
OMIM:106070
UMLS:C1275084
ICD-10:D18.0
NTBT (narrower term maps to a broader term)
Validated
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1275084
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536364
E (exact mapping (the terms and the concepts are equivalent))
OMIM:106070
Tufted angioma
ICD-10:D18.0
MeSH:C536924
Nakagawa angioblastoma
OMIM:607859
UMLS:C0346073
ICD-10:D18.0
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536924
Attributed
UMLS:C0346073
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607859
Aniridia - renal agenesis - psychomotor retardation
Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma (see these terms), telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis (see this term) and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
ICD-10:Q87.8
MeSH:C536371
OMIM:206750
Sommer-Rathbun-Battles syndrome
UMLS:C1859782
orphanet
E (exact mapping (the terms and the concepts are equivalent))
OMIM:206750
Validated
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536371
Attributed
UMLS:C1859782
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Aniridia - cerebellar ataxia - intellectual disability
Aniridia - cerebellar ataxia - intellectual disability, also known as Gillespie syndrome, is a rare congenital disorder characterized by the association of partial bilateral aniridia with non progressive cerebellar ataxia, and intellectual disability.
Gillespie syndrome
OMIM:206700
UMLS:C0431401
orphanet
Validated
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0431401
E (exact mapping (the terms and the concepts are equivalent))
OMIM:206700
Aniridia - ptosis - intellectual disability - familial obesity
Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
orphanet
Validated
Aniridia-intellectual disability syndrome
Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia (see this term) and cataracts. There have been no further descriptions in the literature since 1974.
MeSH:C536568
UMLS:C2931243
Walker-Dyson syndrome
orphanet
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931243
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536568
Validated
Aniridia - absent patella
Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
ICD-10:Q87.8
OMIM:106220
orphanet
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:106220
BOR syndrome
2.5
Branchiootorenal syndrome
ICD-10:Q87.8
MeSH:D019280
MedDRA:10071135
OMIM:113650
OMIM:610896
UMLS:C0265234
BTNT (broader term maps to a narrower term)
OMIM:610896
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10071135
Validated
2.5
E (exact mapping (the terms and the concepts are equivalent))
OMIM:113650
Attributed
UMLS:C0265234
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D019280
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Anisakiosis
1.6
0.32
, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal (classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions) or allergic manifestations (urticaria, angioedema, anaphylactic shock).
ICD-10:B81.0
MeSH:D017129
MedDRA:10002533
UMLS:C0162576
UMLS:C2711591
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D017129
Specific code (The term has its own code in the ICD10)
UMLS:C0162576
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2711591
Validated
1.6
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:B81.0
Validated
0.32
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10002533
Ankyloblepharon - ectodermal defects - cleft lip/palate
AEC syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
Hay-Wells syndrome
ICD-10:Q82.4
MeSH:C535289
OMIM:106260
UMLS:C1785148
orphanet
ICD-10:Q82.4
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C535289
Attributed
UMLS:C1785148
E (exact mapping (the terms and the concepts are equivalent))
OMIM:106260
Ankyloblepharon filiforme adnatum - cleft palate
MeSH:C536373
OMIM:106250
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536373
E (exact mapping (the terms and the concepts are equivalent))
OMIM:106250
Ankyloblepharon filiforme - imperforate anus
Aughton-Hufnagle syndrome
ICD-10:Q87.8
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Validated
Dental ankylosis
Ankylosis of teeth
ICD-10:K03.5
MeSH:D020254
MedDRA:10044019
UMLS:C0155930
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:K03.5
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10044019
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D020254
Specific code (The term has its own code in the ICD10)
UMLS:C0155930
Thumb stiffness - brachydactyly - intellectual disability
ICD-10:Q87.2
MeSH:C537511
OMIM:188201
Piussan-Lenaerts-Mathieu syndrome
UMLS:C2931515
Validated
Attributed
UMLS:C2931515
E (exact mapping (the terms and the concepts are equivalent))
OMIM:188201
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537511
ICD-10:Q87.2
NTBT (narrower term maps to a broader term)
Babesiosis
and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.
ICD-10:B60.0
MeSH:D001404
MedDRA:10003965
UMLS:C0004576
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10003965
Not yet validated
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D001404
Specific code (The term has its own code in the ICD10)
UMLS:C0004576
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:B60.0
Coronary artery congenital malformation
ICD-10:Q24.5
MedDRA:10061060
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10061060
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q24.5
Microlissencephaly
ICD-10:Q04.3
OMIM:614019
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:614019
Isolated lissencephaly type 1 without known genetic defects
ICD-10:Q04.3
Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.
orphanet
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Short stature-heart defect-craniofacial anomalies syndrome
ICD-10:Q87.1
Rommen-Mueller-Sybert syndrome
ICD-10:Q87.1
NTBT (narrower term maps to a broader term)
Non-syndromic esophageal malformation
Syndromic esophageal malformation
Non-syndromic gastroduodenal malformation
Syndromic gastroduodenal malformation
Non-syndromic intestinal malformation
Syndromic intestinal malformation
Non-syndromic visceral malformation
Syndromic visceral malformation
Non-syndromic diaphragmatic or abdominal wall malformation
Syndromic diaphragmatic or abdominal wall malformation
Non-syndromic developmental defect of the eye
Syndromic developmental defect of the eye
Anomalie syndromique du développement des yeux
Non-syndromic central nervous system malformation
Syndrome with a central nervous system malformation as major feature
Non-syndromic respiratory or mediastinal malformation
Syndromic respiratory or mediastinal malformation
Rare anemia
Rare intoxication
Bannayan-Riley-Ruvalcaba syndrome
BRRS
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
ICD-10:Q87.8
Myhre-Riley-Smith syndrome
OMIM:153480
UMLS:C0265326
orphanet
Attributed
UMLS:C0265326
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:153480
Arthrogryposis syndrome
ICD-10:Q68.8
MeSH:D001176
UMLS:C0003886
ICD-10:Q68.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D001176
Attributed
UMLS:C0003886
Syndrome with limb malformations as a major feature
ICD-10:Q87.2
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q87.2
Non-syndromic limb malformation
Renal-genital-middle ear anomalies
ICD-10:Q87.8
OMIM:267400
E (exact mapping (the terms and the concepts are equivalent))
OMIM:267400
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Anonychia - microcephaly
ICD-10:Q87.8
MeSH:C536948
OMIM:607214
Teebi-Kaurah syndrome
UMLS:C2931373
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607214
Attributed
UMLS:C2931373
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C536948
Validated
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Pentasomy X
49,XXXXX syndrome
ICD-10:Q97.1
MeSH:C535319
Penta-X
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
Poly-X
UMLS:C0265497
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C535319
Attributed
UMLS:C0265497
ICD-10:Q97.1
NTBT (narrower term maps to a broader term)
Bardet-Biedl syndrome
0.7
0.8
0.2
0.64
0.6
7.4
5.6
BBS
ICD-10:Q87.8
MeSH:D020788
MedDRA:10056715
OMIM:209900
OMIM:600151
OMIM:605231
OMIM:615981
OMIM:615982
OMIM:615983
OMIM:615984
OMIM:615985
OMIM:615986
OMIM:615987
OMIM:615988
OMIM:615989
OMIM:615990
OMIM:615991
OMIM:615992
OMIM:615993
OMIM:615994
OMIM:615995
OMIM:615996
UMLS:C0752166
E (exact mapping (the terms and the concepts are equivalent))
OMIM:615985
BTNT (broader term maps to a narrower term)
OMIM:615995
BTNT (broader term maps to a narrower term)
OMIM:600151
BTNT (broader term maps to a narrower term)
OMIM:615988
BTNT (broader term maps to a narrower term)
OMIM:615986
Not yet validated
0.6
BTNT (broader term maps to a narrower term)
OMIM:209900
BTNT (broader term maps to a narrower term)
OMIM:615994
BTNT (broader term maps to a narrower term)
OMIM:615991
BTNT (broader term maps to a narrower term)
OMIM:615989
BTNT (broader term maps to a narrower term)
OMIM:615992
Validated
0.2
BTNT (broader term maps to a narrower term)
OMIM:615996
Not yet validated
7.4
BTNT (broader term maps to a narrower term)
OMIM:615983
Validated
0.7
Inclusion term (The term is included under a ICD10 category and has not its own code)
UMLS:C0752166
BTNT (broader term maps to a narrower term)
OMIM:615990
BTNT (broader term maps to a narrower term)
OMIM:615982
Not yet validated
5.6
BTNT (broader term maps to a narrower term)
OMIM:605231
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D020788
BTNT (broader term maps to a narrower term)
OMIM:615993
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10056715
BTNT (broader term maps to a narrower term)
OMIM:615987
Not yet validated
0.64
BTNT (broader term maps to a narrower term)
OMIM:615984
Not yet validated
0.8
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
BTNT (broader term maps to a narrower term)
OMIM:615981
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
Cassia Stocco dos Santos syndrome
ICD-10:Q87.8
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Validated
Anophthalmia - hypothalamo-pituitary insufficiency
This class is deprecated. The preferred class is use http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia
Anophthalmia plus syndrome
Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Fryns microphthalmia syndrome
ICD-10:Q02
MeSH:C537767
OMIM:600776
UMLS:C1833339
orphanet
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537767
Validated
ICD-10:Q02
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600776
Attributed
UMLS:C1833339
Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
ICD-10:Q87.2
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
OAS
OMIM:206920
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
orphanet
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:206920
ICD-10:Q87.2
NTBT (narrower term maps to a broader term)
Barth syndrome
0.15
0.22
0.71
0.29
3-methylglutaconic aciduria type 2
BTHS
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Cardioskeletal myopathy-neutropenia
ICD-10:E71.1
MGA2
MeSH:D056889
OMIM:302060
UMLS:C0574083
X-linked cardioskeletal myopathy and neutropenia
orphanet
Not yet validated
0.15
Validated
0.29
E (exact mapping (the terms and the concepts are equivalent))
OMIM:302060
Validated
0.22
ICD-10:E71.1
NTBT (narrower term maps to a broader term)
Validated
0.71
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D056889
Attributed
UMLS:C0574083
Aortic arch anomaly - peculiar facies - intellectual disability
ICD-10:Q87.8
MeSH:C537785
OMIM:107500
UMLS:C1862682
Attributed
UMLS:C1862682
Validated
E (exact mapping (the terms and the concepts are equivalent))
OMIM:107500
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C537785
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
ICD-10:Q87.8
Johnson-Munson syndrome
MeSH:C535881
OMIM:207620
UMLS:C1859754
E (exact mapping (the terms and the concepts are equivalent))
OMIM:207620
Attributed
UMLS:C1859754
Validated
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
E (exact mapping (the terms and the concepts are equivalent))
MeSH:C535881
Aphalangy - syndactyly - microcephaly
ICD-10:Q87.2
OMIM:600384
Validated
ICD-10:Q87.2
NTBT (narrower term maps to a broader term)