Familial partial lipodystrophy, Dunnigan type

Preferred Label : Familial partial lipodystrophy, Dunnigan type;

ICD-11 definition : Familial partial lipodystrophy, Dunnigan type belongs to the group of partial lipodystrophies with insulin resistance. Clinically, it is mainly characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk) accompanied by an accumulation of adipose tissue in the face and neck, resulting in pseudo-cushingoid facies.;

ICD-11 synonym : Familial partial lipodystrophy type 2; Dunnigan syndrome; FPLD2 - [Familial partial lipodystrophy type 2];

ICD-11 acronym : FPLD2;

Details

Origin ID

2068585355;

Automatic exact mappings (from CISMeF team)
- LMNA wt Allele [NCIt concept]
- familial partial lipodystrophy [DO Concept]
- lipodystrophy, familial partial [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial Partial Lipodystrophy Type 2 [NCIt 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]

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