Corneal endothelial dystrophy 1, autosomal dominant

Preferred Label : Corneal endothelial dystrophy 1, autosomal dominant;

Obsolete resource : true;

Moved to : 122000;

Alternative titles and symbols : Ched1; Corneal dystrophy, congenital hereditary endothelial; Ched; Congenital hereditary endothelial dystrophy of cornea; Maumenee corneal dystrophy;

Description : Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. There are both autosomal dominant (CHED1) and autosomal recessive (CHED2; 217700) forms, with the latter being more common and more severe (summary by Vithana et al., 2006).;

Inheritance : Autosomal dominant form; ? same as anterior segment mesenchymal dysgenesis (107250); Most cases recessive;

Prefixed ID : 121700;

Details

Origin ID

121700;

Currated CISMeF NLP mapping
- Congenital hereditary endothelial dystrophy type 1 (disorder) [SNOMED CT concept]
- Congenital hereditary endothelial dystrophy type I [ORDO Disease]
- congenital hereditary endothelial dystrophy type I [Disease (Nov.)]
- corneal endothelial dystrophy 1 [MeSH concept]
- corneal endothelial dystrophy 1 [MeSH Supplementary Concept]
HPO term(s)
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- Congenital hereditary endothelial dystrophy type I [ORDO Disease]
See also inter- (CISMeF)
- Corneal endothelial dystrophy type 2 [MeSH concept]
- corneal endothelial dystrophy type 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Congenital hereditary endothelial dystrophy (disorder) [SNOMED CT concept]
- congenital hereditary endothelial dystrophy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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