OMOP Concept 36715141
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
StandardConditionSNOMED720639008Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
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
2 source codes normalize to Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536729 | Zunich neuroectodermal syndrome | Non-standard |
| Nebraska Lexicon | 720639008 | Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome | Non-standard |
Synonyms
Alternative names recorded for Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome across source vocabularies.
- CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome
- CHIME syndrome
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)
- Neuroectodermal dysplasia CHIME type
- síndrome de coloboma, cardiopatía congénita, dermatosis ictiosiforme, discapacidad intelectual y anomalías auditivas
- síndrome de coloboma, cardiopatía congénita, dermatosis ictiosiforme, discapacidad intelectual y anomalías auditivas (trastorno)
- Zunich Kaye syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(89)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Cardiovascular system hereditary disorder
- 1Coloboma of eye
- 1Congenital heart disease
- 1Developmental hereditary disorder
- 1Ectodermal dysplasia
- 1Hearing loss associated with syndrome
- 1Hereditary disorder of the integument
- 1Hereditary disorder of the visual system
- 1Intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 2Autosomal hereditary disorder
- 2Behavior finding
- 2Congenital anomaly of cardiovascular structure of trunk
- 2Congenital anomaly of eye
- 2Congenital anomaly of face
- 2Congenital anomaly of thorax
- 2Congenital ectodermal defect
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of cardiovascular system
- 2Disorder of integument
- 2Genodermatosis
- 2Hearing loss
Get this concept via the API
Resolve Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly 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/36715141?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card