Corneal dystrophy, epithelial basement membrane

Preferred Label : Corneal dystrophy, epithelial basement membrane;

Symbol : EBMD;

CISMeF acronym : EBMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corneal dystrophy, map-dot-fingerprint type; Cogan corneal dystrophy; Corneal dystrophy, microcystic; Corneal dystrophy, anterior basement membrane;

Inheritance : Autosomal dominant;

Prefixed ID : #121820;

Details

Origin ID

121820;

UMLS CUI

C0521723;

Automatic exact mappings (from CISMeF team)
- Microcystic corneal dystrophy [ICD-11 More detail]
- TGFBI wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Basement membrane corneal dystrophy [ICD-11 More detail]
- Corneal dystrophy, epithelial basement membrane [MeSH concept]
- Epithelial basement membrane dystrophy [MedDRA LLT]
- Epithelial basement membrane dystrophy [ORDO Disease]
- Epithelial basement membrane dystrophy (disorder) [SNOMED CT concept]
- Map dot fingerprint dystrophy [MedDRA LLT]
- Map-dot-fingerprint corneal dystrophy [HPO term]
- corneal dystrophy, epithelial basement membrane [MeSH Supplementary Concept]
- epithelial basement membrane dystrophy [DO Concept]
- epithelial stromal corneal dystrophy [SNOMED Notion]
DO Cross reference
- epithelial basement membrane dystrophy [DO Concept]
False automatic mappings
- Microscopic cystic corneal dystrophy (disorder) [Inactive SNOMED CT concept]
Genes related to phenotype
- Transforming growth factor, beta-induced, 68-kd [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Juvenile onset [HPO term]
- Map-dot-fingerprint corneal dystrophy [HPO term]
- Middle age onset [HPO term]
- Recurrent corneal erosions [HPO term]
- Reduced visual acuity [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Epithelial basement membrane dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneal dystrophy, epithelial basement membrane [MeSH concept]
- Epithelial basement membrane dystrophy [ORDO Disease]
- Epithelial basement membrane dystrophy [MedDRA LLT]
- Epithelial basement membrane dystrophy (disorder) [SNOMED CT concept]
- Map dot fingerprint dystrophy [MedDRA LLT]
- Map-dot-fingerprint corneal dystrophy [HPO term]
- corneal dystrophy, epithelial basement membrane [MeSH Supplementary Concept]
- epithelial stromal corneal dystrophy [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients