medium chain acyl CoA dehydrogenase deficiency

Preferred Label : medium chain acyl CoA dehydrogenase deficiency;

CISMeF acronym : MCAD;

MeSH synonym : Acyl-CoA dehydrogenase, medium chain, deficiency of; carnitine deficiency secondary to Medium-Chain Acyl-Coa dehydrogenase deficiency; medium-chain Acyl-CoA dehydrogenase deficiency; Acyl-Coa dehydrogenase, Medium-Chain, deficiency of; MCAD Deficiency; Medium Chain Acyl-Coa Dehydrogenase Deficiency; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; ACADM Deficiency; MCADH Deficiency;

Details

Origin ID

C536038;

UMLS CUI

C0220710;

Currated CISMeF NLP mapping
- Acyl-coa dehydrogenase, medium-chain, deficiency of [OMIM Phenotype]
- Medium chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- 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 [DO Concept]
MeSH term(s) associated for indexing
- Acyl-CoA dehydrogenase [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
Record concept(s)
- Medium chain acyl CoA dehydrogenase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-coa dehydrogenase, medium-chain, deficiency of [OMIM Phenotype]
- MCAD [LOINC component]
- 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]
- medium chain acyl-CoA dehydrogenase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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