autosomal dominant epidermolysis bullosa simplex

Preferred Label : autosomal dominant epidermolysis bullosa simplex;

Origin ID

D6-90947;

UMLS CUI

C0268375;

Currated CISMeF NLP mapping
- Autosomal dominant epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex, Ogna type [MeSH concept]
- Epidermolysis bullosa simplex, Ogna type (disorder) [SNOMED CT concept]
- PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement [ORDO Disease]
- epidermolysis bullosa simplex, ogna type [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Epidermolysis bullosa simplex [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Basal epidermolysis bullosa simplex [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
See also inter- (CISMeF)
- Epidermolysis bullosa simplex 5a, ogna type [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant epidermolysis bullosa simplex (disorder) [SNOMED CT concept]