lipodystrophy, congenital generalized, type 4

Preferred Label : lipodystrophy, congenital generalized, type 4;

MeSH note : mutations in PTRF;

MeSH synonym : Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy; lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy;

Details

Origin ID

C567642;

UMLS CUI

C2750069;

Currated CISMeF NLP mapping
- Generalised congenital lipodystrophy with myopathy [ICD-11 More detail]
- Generalized congenital lipodystrophy with myopathy [ORDO Disease]
- Generalized congenital lipodystrophy with myopathy (disorder) [SNOMED CT concept]
- Lipodystrophy, congenital generalized, type 4 [OMIM Phenotype]
- congenital generalized lipodystrophy type 4 [DO Concept]
MeSH term(s) associated for indexing
- lipodystrophy, congenital generalized [MeSH Descriptor]
Record concept(s)
- lipodystrophy, congenital generalized, type 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized congenital lipodystrophy with myopathy (disorder) [SNOMED CT concept]
- Lipodystrophy, congenital generalized, type 4 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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