OMOP Concept 4006473
Autosomal dominant hereditary disorder
StandardConditionSNOMED11164009Disorder
Maps from
4
Descendants
1,212
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Autosomal dominant hereditary disorder via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 141434 | Ehlers-Danlos syndrome, dominant type 4 | Non-standard |
| CIEL | 148092 | Autosomal dominant oculocutaneous albinism | Non-standard |
| CIEL | 148097 | Autosomal dominant analbuminemia | Non-standard |
| Nebraska Lexicon | 11164009 | Autosomal dominant hereditary disorder | Non-standard |
Synonyms
Alternative names recorded for Autosomal dominant hereditary disorder across source vocabularies.
- AD - Autosomal dominant
- Autosomal dominant hereditary disorder (disorder)
- trastorno hereditario dominante
- trastorno hereditario dominante (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(5)Roll up to these when you need a wider cohort.
Narrower concepts
(1,212)Included automatically when you query with descendants.
- 111p15.4 microduplication syndrome
- 114q32 duplication syndrome
- 117q11.2 microduplication syndrome
- 117q23.1-q23.2 duplication syndrome
- 12p13.2 microdeletion syndrome
- 13q27.3 microdeletion syndrome
- 13q29 microdeletion syndrome
- 18q13 microdeletion syndrome
- 18q24.3 microdeletion syndrome
- 1Aase Smith type 1 syndrome
- 1Aase syndrome
- 1Ablepharon macrostomia syndrome
- 1Absence of fingerprints with congenital milia syndrome
- 1Achondroplasia
- 1Acrocephalosyndactyly type I
- 1Acrocephalosyndactyly type V
- 1Acrodysostosis
- 1Acrokeratosis verruciformis of Hopf
- 1Acromegaloid facial appearance syndrome
- 1Acromicric dysplasia
- 1Acroosteolysis, keloid-like lesions, premature aging syndrome
- 1Acropectoral syndrome
- 1Acropectorovertebral dysplasia
- 1Acrorenoocular syndrome
- 1Activated PI3K-delta syndrome
- 1Acute intermittent porphyria
- 1ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome
- 1Adult onset autosomal dominant leukodystrophy
- 1Adult-onset cervical dystonia DYT23 type
- 1Adult-onset distal myopathy due to valosin containing protein mutation
- 1AGel amyloidosis
- 1AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
- 1AKT2-related familial partial lipodystrophy
- 1Albinism-deafness syndrome of Tietz
- 1Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome
- 1Alpha-B crystallin-related late-onset myopathy
- 1Alport syndrome autosomal dominant
- 1Amelogenesis imperfecta - hypoplastic autosomal dominant - local
- 1Amelogenesis imperfecta - hypoplastic autosomal dominant - rough
- 1Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth
- 1Amelo-onycho-hypohidrotic syndrome
- 1Amyotrophic lateral sclerosis type 10
- 1Amyotrophic lateral sclerosis type 3
- 1Amyotrophic lateral sclerosis type 4
- 1Amyotrophic lateral sclerosis type 8
- 1Amyotrophic lateral sclerosis type 9
- 1Andersen Tawil syndrome
- 1Aneurysm osteoarthritis syndrome
- 1Angel-shaped phalangoepiphyseal dysplasia
- 1Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation
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