epidermolysis bullosa with congenital localized absence of skin and deformity of nails

Preferred Label : epidermolysis bullosa with congenital localized absence of skin and deformity of nails;

MeSH synonym : epidermolysis bullosa dystrophica, bart type;

Details

Origin ID

C562638;

UMLS CUI

C0268371;

Automatic exact mappings (from CISMeF team)
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [DO Concept]
CISMeF manual mappings
- Bart syndrome [Disease (Nov.)]
Currated CISMeF NLP mapping
- Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) [SNOMED CT concept]
- Epidermolysis bullosa with congenital localized absence of skin and deformity of nails [OMIM Phenotype]
- dominant dystrophic epidermolysis bullosa with absence of skin [SNOMED Notion]
MeSH term(s) associated for indexing
- epidermolysis bullosa dystrophica [MeSH Descriptor]
Record concept(s)
- epidermolysis bullosa with congenital localized absence of skin and deformity of nails [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Bart syndrome [Disease (Nov.)]
- Dominant dystrophic epidermolysis bullosa with absence of skin (disorder) [SNOMED CT concept]
- Epidermolysis bullosa with congenital localized absence of skin and deformity of nails [OMIM Phenotype]
- dominant dystrophic epidermolysis bullosa with absence of skin [SNOMED Notion]

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