Epicanthus - CISMeF

Preferred Label : Epicanthus;

Type : Phenotype or locus, molecular basis unknown;

Description : Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).;

Inheritance : Autosomal dominant;

Prefixed ID : %131500;

Details

Origin ID

131500;

UMLS CUI

C0678230;

Automatic exact mappings (from CISMeF team)
- epicanthal fold [UBERON concept]
Currated CISMeF NLP mapping
- Epicanthic folds [HRDO Sign]
- Epicanthus [PASCAL descriptor]
- Epicanthus [HPO term]
- Palpebronasal fold [FMA entity]
- palpebronasal fold [SNOMED Notion]
False automatic mappings
- Skin structure of epicanthal fold (body structure) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Epicanthus [HPO term]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients