OMOP Concept 4209284
Bardet-Biedl syndrome
StandardConditionSNOMED5619004Disorder
Maps from
6
Descendants
0
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
6 source codes normalize to Bardet-Biedl syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 147973 | Bardet-Biedl syndrome | Non-standard |
| ICD10CM | Q87.83 | Bardet-Biedl syndrome | Non-standard |
| ICD10CN | Q87.807 | Infantilism - obesity - polydactyly syndrome malformation (machine translation) | Non-standard |
| MeSH | D020788 | Bardet-Biedl Syndrome | Non-standard |
| Read | PKy1.00 | Laurence-Moon-Biedl syndrome | Non-standard |
| Read | PKy1.11 | Biedl-Bardet syndrome | Non-standard |
Synonyms
Alternative names recorded for Bardet-Biedl syndrome across source vocabularies.
- Bardet-Biedl syndrome (disorder)
- Biedl-Bardet syndrome
- Laurence-Moon-Biedl syndrome
- LMBB - Laurence-Moon-Bardet-Biedl syndrome
- síndrome de Bardet - Biedl
- síndrome de Bardet - Biedl (trastorno)
- síndrome de Laurence - Moon - Biedl
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(33)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Genetic syndromic childhood obesity
- 1Multiple system malformation syndrome
- 2Autosomal hereditary disorder
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Genetic childhood obesity disorder
- 2Genetic disease
- 2Hereditary disease
- 2Intellectual disability
- 3Abnormal behavior
- 3Childhood obesity
- 3Congenital malformation
- 3Disease
- 3Genetic obesity disorder
- 3Impaired cognition
- 3Intellectual ability - finding
- 3Neurodevelopmental disorder
- 4Behavior finding
- 4Clinical finding
- 4Cognitive function finding
- 4Congenital disease
- 4Intelligence finding
Showing 25 of 33. Retrieve the full set via the API.
Get this concept via the API
Resolve Bardet-Biedl syndrome - 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/4209284?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card