Familial partial lipodystrophy associated with PLIN1 mutations

Preferred Label : Familial partial lipodystrophy associated with PLIN1 mutations;

ICD-11 definition : This refers to an autosomal dominant skin condition characterized by the loss of subcutaneous fat. This diagnosis is associated with PLIN1 mutations.;

Details

Origin ID

98904071;

Currated CISMeF NLP mapping
- Lipodystrophy, familial partial, type 4 [OMIM Phenotype]
- PLIN1-related familial partial lipodystrophy [ORDO Disease]
- Perilipin 1 related familial partial lipodystrophy (disorder) [SNOMED CT concept]
- familial partial lipodystrophy type 4 [DO Concept]

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