Dermochondrocorneal dystrophy

Preferred Label : Dermochondrocorneal dystrophy;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Francois syndrome;

Description : Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992).;

Inheritance : Autosomal recessive;

Prefixed ID : %221800;

Details

Origin ID

221800;

UMLS CUI

C0432288;

Automatic exact mappings (from CISMeF team)
- Dermochondrocorneal dystrophy of François [PASCAL descriptor]
Currated CISMeF NLP mapping
- Dermochondrocorneal dystrophy [ICD-11 More detail]
- Dermochondrocorneal dystrophy [ORDO Disease]
- Dermochondrocorneal dystrophy of François [MeSH concept]
- Francois syndrome (disorder) [SNOMED CT concept]
- dermochondrocorneal dystrophy [Disease (Nov.)]
- dermochondrocorneal dystrophy of françois [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the hand [HPO term]
- Anterior cortical cataract [HPO term]
- Autosomal recessive inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Gingival overgrowth [HPO term]
- Irregular tarsal ossification [HPO term]
- Joint subluxation [HPO term]
- Skin nodule [HPO term]
- Subepithelial corneal opacities [HPO term]
ORDO concept(s)
- Dermochondrocorneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dermochondrocorneal dystrophy [ORDO Disease]
- Dermochondrocorneal dystrophy of François [MeSH concept]
- Francois syndrome (disorder) [SNOMED CT concept]
- dermochondrocorneal dystrophy [Disease (Nov.)]
- dermochondrocorneal dystrophy of françois [MeSH Supplementary Concept]

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