Meesmann Corneal Dystrophy

Preferred Label : Meesmann Corneal Dystrophy;

NCIt synonyms : Juvenile Epithelial of Meesmann Corneal Dystrophy;

NCIt definition : An autosomal dominant inherited corneal disorder caused by mutations in the KRT3 and KRT12 genes. It is characterized by the formation of multiple tiny cysts in the epithelial layer of the cornea. The cysts may rupture, causing pain, redness and light sensitivity. Vision usually is not affected.;

Details

Origin ID

C84795;

UMLS CUI

C0339277;

Automatic exact mappings (from CISMeF team)
- keratin 12 [ORDO Gene]
- keratin 12 [HGNC gene]
Currated CISMeF NLP mapping
- Corneal dystrophy, meesmann [OMIM phenotypic series]
- Juvenile epithelial corneal dystrophy [MedDRA LLT]
- Juvenile epithelial corneal dystrophy [HPO term]
- Juvenile epithelial corneal dystrophy [ICD-9 code]
- Juvenile epithelial corneal dystrophy (disorder) [SNOMED CT concept]
- Meesman's dystrophy [MedDRA LLT]
- Meesmann corneal dystrophy [PASCAL descriptor]
- Meesmann corneal dystrophy [DO Concept]
- Meesmann corneal dystrophy [ORDO Disease]
- Meesmann corneal dystrophy 1 [DO Concept]
- Meesmann juvenile epithelial corneal dystrophy [ICD-11 More detail]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH Descriptor]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH concept]
- juvenile corneal epithelial dystrophy [Disease (Nov.)]
- juvenile epithelial corneal dystrophy [SNOMED Notion]
DO Cross reference
- Meesmann corneal dystrophy [DO Concept]
Has associated anatomic sites
- Cornea [NCIt concept]
- Eye [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneal dystrophy, meesmann, 1 [OMIM Phenotype]
- Juvenile epithelial corneal dystrophy [MedDRA LLT]
- Juvenile epithelial corneal dystrophy [HPO term]
- Juvenile epithelial corneal dystrophy [ICD-9 code]
- Juvenile epithelial corneal dystrophy (disorder) [SNOMED CT concept]
- Meesmann corneal dystrophy [ORDO Disease]
- Meesmann corneal dystrophy [PASCAL descriptor]
- Meesmann corneal dystrophy [DO Concept]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH concept]
- corneal dystrophy, juvenile epithelial of meesmann [MeSH Descriptor]
- juvenile corneal epithelial dystrophy [Disease (Nov.)]
- juvenile epithelial corneal dystrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- Corneal dystrophy, meesmann, 1 [OMIM Phenotype]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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