OMOP Concept 35624210
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
StandardConditionSNOMED766824003Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2018
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 ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C000730394 | Helsmoortel-Van der Aa syndrome | Non-standard |
Synonyms
Alternative names recorded for ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder across source vocabularies.
- Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder
- Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder)
- anomalías congénitas múltiples, discapacidad intelectual y trastorno del espectro autista relacionados con la proteína neuroprotectora dependiente de actividad homeobox
- anomalías congénitas múltiples, discapacidad intelectual y trastorno del espectro autista relacionados con la proteína neuroprotectora dependiente de actividad homeobox (trastorno)
- Helsmoortel-van der Aa syndrome
- síndrome de Helsmoortel-van der Aa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(32)Roll up to these when you need a wider cohort.
- 1Autism spectrum disorder
- 1Genetic intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 2Congenital anomaly of face
- 2Disorder of psychological development
- 2Genetic disease
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 3Abnormal behavior
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Developmental mental disorder
- 3Disease
- 3Disorder of face
- 3Impaired cognition
- 3Intellectual ability - finding
- 3Neurodevelopmental disorder
- 4Behavior finding
- 4Clinical finding
- 4Cognitive function finding
- 4Congenital malformation
- 4Developmental disorder
- 4Disorder of head
- 4Finding of face
- 4Intelligence finding
Showing 25 of 32. Retrieve the full set via the API.
Get this concept via the API
Resolve ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum 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/35624210?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card