Zunich-Kaye syndrome

Preferred Label : Zunich-Kaye syndrome;

ICD-11 definition : Zunich-Kaye syndrome is characterized by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual deficit, and characteristic facial features: brachycephaly, mild upslanting of the palpebral fissures, pale blue irides, hypertelorism, flat midface and philtrum, anteverted nostrils, thin upper lip and excessive creases around a wide mouth. The acronym CHIME was proposed for the Zunich-Kaye syndrome: Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects or Epilepsy.;

Détails

Origin ID

920396015;

UMLS CUI

C1848392;

Currated CISMeF NLP mapping
- CHIME syndrome [ORDO Disease]
- CHIME syndrome [DO Concept]
- Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome [OMIM Phenotype]
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) [SNOMED CT concept]
- Zunich neuroectodermal syndrome [MeSH concept]
- zunich neuroectodermal syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHIME syndrome [ORDO Disease]
- CHIME syndrome [DO Concept]
- Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome [OMIM Phenotype]
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) [SNOMED CT concept]
- Zunich neuroectodermal syndrome [MeSH concept]
- zunich neuroectodermal syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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