Sclerocornea, autosomal dominant

Preferred Label : Sclerocornea, autosomal dominant;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).;

Inheritance : Autosomal dominant form;

Prefixed ID : 181700;

Détails

Origin ID

181700;

UMLS CUI

C1866984;

Currated CISMeF NLP mapping
- sclerocornea, autosomal dominant [MeSH concept]
- sclerocornea, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- sclerocornea [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Sclerocornea [HPO term]
ORDO concept(s)
- Isolated congenital sclerocornea [ORDO Disease]
See also inter- (CISMeF)
- Isolated congenital sclerocornea [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated congenital sclerocornea [ORDO Disease]
- sclerocornea, autosomal dominant [MeSH Supplementary Concept]
- sclerocornea, autosomal dominant [MeSH concept]

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

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