Medium chain acyl-CoA dehydrogenase deficiency

Preferred Label : Medium chain acyl-CoA dehydrogenase deficiency;

ICD-11 definition : Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of mitochondrial fatty acid oxidation, clinically characterised by acute episodes of hypoketotic hypoglycemia with hepatomegaly (pseudo Reye syndrome), triggered by fasting or infections, which occur generally within the two first years of life. There is no muscle nor cardiac involvement.;

ICD-11 synonym : MCAD deficiency; MCAD - [Medium chain acyl-CoA dehydrogenase] deficiency;

ICD-11 acronym : MCAD;

Details

Origin ID

627734797;

Automatic exact mappings (from CISMeF team)
- ACADM wt Allele [NCIt concept]
- Acyl-coa dehydrogenase, medium-chain [OMIM gene]
- Cadherin 15 [OMIM gene]
- MCAD [LOINC component]
- Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial [NCIt concept]
- acyl-CoA dehydrogenase medium chain [ORDO Gene]
Currated CISMeF NLP mapping
- Acyl-coa dehydrogenase, medium-chain, deficiency of [OMIM Phenotype]
- Medium chain acyl CoA dehydrogenase deficiency [MeSH concept]
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Medium-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Reye's syndrome (disorder) [SNOMED CT concept]
- medium chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- medium chain acyl-CoA dehydrogenase deficiency [DO Concept]
See also inter- (CISMeF)
- Acyl-CoA dehydrogenase [MeSH Descriptor]
- Acyl-CoA dehydrogenases [MeSH Descriptor]
- Acyl-coenzyme A dehydrogenase (substance) [SNOMED CT concept]
- acyl-coa dehydrogenase [SNOMED Notion]

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