Familial Partial Lipodystrophy Type 2

Preferred Label : Familial Partial Lipodystrophy Type 2;

NCIt synonyms : FPLD2;

NCIt definition : An autosomal dominant sub-type of familial partial lipodystrophy caused by mutation(s) in the LMNA gene encoding prelamin-A/C.;

Details

Origin ID

C165527;

UMLS CUI

C1720860;

Currated CISMeF NLP mapping
- Familial partial lipodystrophy type 2 (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy, Dunnigan type [ORDO Disease]
- Familial partial lipodystrophy, Dunnigan type [ICD-11 More detail]
- Lipodystrophy, familial partial, type 2 [OMIM Phenotype]
- familial partial lipodystrophy type 2 [DO Concept]
- familial partial lipodystrophy, type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial partial lipodystrophy type 2 (disorder) [SNOMED CT concept]
- Familial partial lipodystrophy, Dunnigan type [ORDO Disease]
- Lipodystrophy, familial partial, type 2 [OMIM Phenotype]
- familial partial lipodystrophy type 2 [DO Concept]
- familial partial lipodystrophy, type 2 [MeSH concept]
Validated automatic mappings to NTBT
- lipodystrophy, familial partial [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LMNA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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