OMOP Concept 4006473
Autosomal dominant hereditary disorder
StandardConditionSNOMED11164009Disorder
Maps from
3
Descendants
1,238
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
3 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 |
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
(1,238)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
- 13q26q28 deletion 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
Showing 25 of 1,238. Retrieve the full set via the API.
Get this concept via the API
Resolve Autosomal dominant hereditary disorder - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/4006473?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card