Berardinelli-Seip congenital lipodystrophy

Preferred Label : Berardinelli-Seip congenital lipodystrophy;

ICD-11 definition : Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes.;

ICD-11 synonym : BSCL - [Berardinelli-Seip congenital lipodystrophy]; Brunzell syndrome; Lipoatrophic diabetes; Berardinelli type lipodystrophy; Beradinelli-Seip syndrome;

ICD-11 acronym : BSCL;

Details

Origin ID

1628738474;

Automatic exact mappings (from CISMeF team)
- 1-acylglycerol-3-phosphate O-acyltransferase 2 [ORDO Gene]
- Berardinelli-Seip Congenital Lipodystrophy [NCIt concept]
- Congenital generalised lipodystrophy [MedDRA Preferred Term]
- Congenital generalized lipodystrophy [ORDO Disease]
- Congenital generalized lipodystrophy [HPO term]
- Congenital total lipodystrophy (disorder) [SNOMED CT concept]
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Krabbe disease [OMIM Phenotype]
- Lipoatrophic Diabetes Mellitus [NCIt concept]
- Lipoatrophic diabetes [MedDRA LLT]
- Lipoatrophic diabetes [PASCAL descriptor]
- Lipoatrophic diabetes (disorder) [SNOMED CT concept]
- Lipodystrophy, familial partial, type 2 [OMIM Phenotype]
- diabetes mellitus, lipoatrophic [MeSH concept]
- diabetes mellitus, lipoatrophic [MeSH Descriptor]
- lipoatrophic diabetes mellitus [DO Concept]
- lipodystrophy, congenital generalized [MeSH Descriptor]
- lipodystrophy, congenital generalized [MeSH concept]
- lipodystrophy, nos [SNOMED Notion]

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