Multiple acyl-CoA dehydrogenase deficiency

Preferred Label : Multiple acyl-CoA dehydrogenase deficiency;

ICD-11 definition : Multiple FAD dehydrogenase deficiency, also known as glutaric aciduria type II, is a disorder of fatty acid oxidation, of branched aminoacids, lysine and glutaric acid. The enzymatic deficiency can be complete causing severe disorders in neonates, ot incomplete (Juvenile, adolescent or even adult forms) that are less severe, with progressive myocardiopathy or proximal myopathy.;

ICD-11 synonym : MADD - [Multiple acyl-CoA dehydrogenase deficiency]; Multiple FAD dehydrogenase deficiency; ETFDH deficiency; Electron transfer flavoprotein ubiquinone oxydoreductase deficiency; Glutaric aciduria type 2; Glutaric acidaemia type 2; Ethylmalonic-adipicaciduria; ETFDH - [Electron transfer flavoprotein ubiquinone oxydoreductase] deficiency; Electron transfer flavoprotein deficiency;

ICD-11 acronym : MADD;

Details

Origin ID

977130875;

Automatic exact mappings (from CISMeF team)
- Map kinase-activating death domain [OMIM gene]
- electron transfer flavoprotein subunit alpha [ORDO Gene]
- multiple acyl-CoA dehydrogenase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Glutaric Acidemia Type 2 [NCIt concept]
- Glutaric aciduria 2 [MeSH concept]
- Glutaric aciduria, type 2 (disorder) [SNOMED CT concept]
- Multiple Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Multiple acyl-coa dehydrogenase deficiency [OMIM Phenotype]
- glutaric aciduria 2 [MeSH Supplementary Concept]
- glutaric aciduria type 2 [Disease (Nov.)]
- glutaric aciduria, type 2 [SNOMED Notion]
- multiple acyl coenzyme A dehydrogenase deficiency [MeSH concept]
- multiple acyl coenzyme a dehydrogenase deficiency [MeSH Descriptor]
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
False automatic mappings
- Mixed anxiety and depressive disorder (disorder) [SNOMED CT concept]
- monoacetyldapsone [MeSH Supplementary Concept]
See also inter- (CISMeF)
- ETFA wt Allele [NCIt concept]
- MADD Gene [NCIt concept]
- MAP Kinase-Activating Death Domain Protein [NCIt concept]

Keyword's position in hierarchy(ies) :

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