OMOP Concept 36676426
Spondyloepimetaphyseal dysplasia Genevieve type
StandardConditionSNOMED773303005Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2019
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
1 source code normalizes to Spondyloepimetaphyseal dysplasia Genevieve type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535785 | Spondyloepimetaphyseal dysplasia, Genevieve type | Non-standard |
Synonyms
Alternative names recorded for Spondyloepimetaphyseal dysplasia Genevieve type across source vocabularies.
- displasia espondiloepimetafisaria tipo Genevieve
- displasia espondiloepimetafisaria tipo Genevieve (trastorno)
- SEMDG - spondyloepimetaphyseal dysplasia Genevieve type
- Spondyloepimetaphyseal dysplasia Geneviève type
- Spondyloepimetaphyseal dysplasia Genevieve type (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(59)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary disorder of musculoskeletal system
- 1Multiple malformation syndrome with facial defects as major feature
- 1Neurodevelopmental delay
- 1Spondyloepimetaphyseal disorder
- 2Autosomal hereditary disorder
- 2Congenital anomaly of face
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Metaphyseal chondrodysplasia
- 2Multiple system malformation syndrome
- 2Neurodevelopmental disorder
- 3Abnormal behavior
- 3Congenital anomaly of head
- 3Congenital anomaly of skeletal bone
- 3Congenital malformation syndrome
- 3Congenital malformation syndromes associated with short stature
- 3Disease
Showing 25 of 59. Retrieve the full set via the API.
Get this concept via the API
Resolve Spondyloepimetaphyseal dysplasia Genevieve type - 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/36676426?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card