barth syndrome

Preferred Label : barth syndrome;

MeSH definition : Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.;

MeSH synonym : Syndrome, Barth; MGA type IIs; type II, MGA; type IIs, MGA; 3 methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type 2s; type 2, 3-methylglutaconicaciduria; 3-methylglutaconicaciduria type IIs; MGA type 2; MGA type II; 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II; MGA type 2s; type 2, MGA; type 2s, MGA; 3-Methylglutaconic aciduria, type II; 3 methylglutaconic aciduria, type II; cardioskeletal myopathy with neutropenia and abnormal mitochondria;

CISMeF synonym : barth's syndrome; type 2s, 3-methylglutaconicaciduria; type II, 3-methylglutaconicaciduria; type IIs, 3-methylglutaconicaciduria;

Wikipedia link : https://en.wikipedia.org/wiki/Barth syndrome;

Details

Origin ID

D056889;

UMLS CUI

C0574083;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- genetic disorders [MedlinePlus Topic]
- tafazzin, phospholipid-lysophospholipid transacylase [ORDO Gene]
- 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 [PASCAL descriptor]
- Barth syndrome [DO Concept]
- Barth syndrome [ICD-11 More detail]
- Barth syndrome [MedDRA Preferred Term]
- Barth syndrome [OMIM Phenotype]
- Barth syndrome [ORDO Disease]
DO Cross reference
- Barth syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Classic organic aciduria [ORDO Disease]
- Constitutional neutropenia [ORDO Disease]
- Mitochondrial disease with dilated cardiomyopathy [ORDO Disease]
- Mitochondrial disease with eye involvement [ORDO Disease]
ORDO relation(s)
- Barth syndrome [ORDO Disease]
Record concept(s)
- barth syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- dilated cardiomyopathy, neutropenia, skeletal myopathy, and abnormal mitochondria [MeSH Supplementary Concept]
- noncompaction of left ventricular myocardium, familial isolated, X-Linked [MeSH Supplementary Concept]
See also
- isolated noncompaction of the ventricular myocardium [MeSH Descriptor]
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 [OMIM Phenotype]
- Barth syndrome [ORDO Disease]
- Barth syndrome [DO Concept]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [ICD-11 More detail]
- Barth syndrome [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients