Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
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Source codes that map to this concept
1 source code normalizes 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 |
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
(92)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Cardiovascular system hereditary disorder
- 1Coloboma of eye
- 1Congenital heart disease
- 1Developmental hereditary disorder
- 1Ectodermal dysplasia
- 1Genetic intellectual disability
- 1Hearing loss associated with syndrome
- 1Hereditary disorder of the integument
- 1Hereditary disorder of the visual system
- 1Hereditary hearing loss
- 1Multiple malformation syndrome with facial defects as major feature
- 2Auditory system hereditary disorder
- 2Autosomal hereditary disorder
- 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 cardiovascular system
- 2Disorder of integument
- 2Genetic disease
- 2Genodermatosis
- 2Hearing loss
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