epidermolysa bullosa simplex and limb girdle muscular dystrophy

Preferred Label : epidermolysa bullosa simplex and limb girdle muscular dystrophy;

MeSH synonym : epidermolysis bullosa simplex with muscular dystrophy; epidermolysis bullosa simplex and Limb-Girdle muscular dystrophy;

Details

Origin ID

C535955;

UMLS CUI

C2931072;

Currated CISMeF NLP mapping
- Epidermolysis bullosa simplex 5b, with muscular dystrophy [OMIM Phenotype]
- Epidermolysis bullosa simplex with muscular dystrophy [ICD-11 More detail]
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
- Epidermolysis bullosa simplex with muscular dystrophy (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex with muscular dystrophy [DO Concept]
MeSH term(s) associated for indexing
- epidermolysis bullosa simplex [MeSH Descriptor]
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex 5b, with muscular dystrophy [OMIM Phenotype]
- Epidermolysis bullosa simplex with muscular dystrophy [ORDO Disease]
- Epidermolysis bullosa simplex with muscular dystrophy (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex with muscular dystrophy [DO Concept]

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