corneal dystrophy, juvenile epithelial of meesmann

Preferred Label : corneal dystrophy, juvenile epithelial of meesmann;

MeSH definition : An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.;

MeSH synonym : meesmann corneal epithelial dystrophy; meesmann corneal dystrophy; corneal dystrophy, meesmann; meesmann epithelial corneal dystrophy; corneal dystrophies, meesmann; dystrophies, meesmann corneal; meesmann corneal dystrophies; corneal dystrophy, meesmann epithelial; juvenile hereditary epithelial dystrophy;

CISMeF synonym : Meesmann;

Details

Origin ID

D053559;

UMLS CUI

C0339277;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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 [NCIt concept]
- 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]
- juvenile corneal epithelial dystrophy [Disease (Nov.)]
- juvenile epithelial corneal dystrophy [SNOMED Notion]
DO Cross reference
- Meesmann corneal dystrophy [DO Concept]
HPO term
- Juvenile epithelial corneal dystrophy [HPO term]
Manual NTBT mappings (CISMeF)
- Superficial corneal dystrophy [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Keratin-12 [MeSH Descriptor]
- Keratin-3 [MeSH Descriptor]
ORDO relation(s)
- Meesmann corneal dystrophy [ORDO Disease]
Record concept(s)
- corneal dystrophy, juvenile epithelial of meesmann [MeSH 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 [NCIt concept]
- Meesmann corneal dystrophy [ORDO Disease]
- Meesmann corneal dystrophy [DO Concept]
- Meesmann corneal dystrophy [PASCAL descriptor]
- juvenile corneal epithelial dystrophy [Disease (Nov.)]
- juvenile epithelial corneal dystrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- Corneal dystrophy, meesmann, 1 [OMIM Phenotype]

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