Barth syndrome

Preferred Label : Barth syndrome;

ICD-11 definition : Barth syndrome is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.;

ICD-11 synonym : MGA2 - [3-methylglutaconic aciduria type 2]; Tafazzin gene defect; 3-methylglutaconic aciduria type 2; Cardioskeletal myopathy-neutropenia;

ICD-11 acronym : MGA2;

Details

Origin ID

452199926;

UMLS CUI

C0574083;

Automatic exact mappings (from CISMeF team)
- tafazzin, phospholipid-lysophospholipid transacylase [HGNC gene]
Currated CISMeF NLP mapping
- 3 methylglutaconic aciduria type II [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 2 (disorder) [SNOMED CT concept]
- Barth Syndrome [NCIt concept]
- Barth syndrome [ORDO Disease]
- Barth syndrome [DO Concept]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [OMIM Phenotype]
- Barth syndrome [MedDRA Preferred Term]
- barth syndrome [MeSH concept]
- barth syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- tafazzin, phospholipid-lysophospholipid transacylase [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 methylglutaconic aciduria type II [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 2 (disorder) [SNOMED CT concept]
- Barth Syndrome [NCIt concept]
- Barth syndrome [DO Concept]
- Barth syndrome [OMIM Phenotype]
- Barth syndrome [ORDO Disease]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [MedDRA Preferred Term]
- barth syndrome [MeSH Descriptor]
- barth syndrome [MeSH concept]

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