Multiple Acyl-CoA Dehydrogenase Deficiency

Preferred Label : Multiple Acyl-CoA Dehydrogenase Deficiency;

NCIt synonyms : Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Glutaric Acidemia Type 2; MADD;

NCIt related terms : Glutaric Aciduria, Type 2;

NCIt definition : A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes.;

Détails

Origin ID

C84907;

UMLS CUI

C0268596;

Automatic exact mappings (from CISMeF team)
- multiple acyl-CoA dehydrogenase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Glutaric acidemia type 2 [LOINC component]
- Glutaric aciduria 2 [MeSH concept]
- Glutaric aciduria, type 2 (disorder) [SNOMED CT concept]
- Multiple acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Multiple acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- 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]
DO Cross reference
- multiple acyl-CoA dehydrogenase deficiency [DO Concept]
See also inter- (CISMeF)
- glutaric aciduria type 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaric acidemia type 2 [LOINC component]
- Glutaric aciduria, type 2 (disorder) [SNOMED CT concept]
- Multiple acyl-coa dehydrogenase deficiency [OMIM Phenotype]
- Multiple acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- 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]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ETFA Gene [NCIt concept]
- ETFB Gene [NCIt concept]
- ETFDH Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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