short chain acyl CoA dehydrogenase deficiency

Preferred Label : short chain acyl CoA dehydrogenase deficiency;

MeSH note : PROM mutation in ACAD5; lipid-storage myopathy secondary to short-chain Acyl CoA dehydrogenase deficiency;

MeSH synonym : Lipid-Storage myopathy secondary to Short-Chain Acyl-Coa dehydrogenase deficiency; Acyl-Coa dehydrogenase, Short-Chain, deficiency of; Short-Chain Acyl-Coa dehydrogenase deficiency; Short-Chain Acyl-Coenzyme A dehydrogenase deficiency; deficiency of Butyryl-Coa dehydrogenase; scad deficiency; scadh deficiency; acads deficiency;

Details

Origin ID

C537596;

UMLS CUI

C0342783;

Automatic exact mappings (from CISMeF team)
- Butyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Short-chain acyl-CoA dehydrogenase deficiency [LOINC component]
CISMeF manual mappings
- Deficiency of butyryl-CoA dehydrogenase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acyl-CoA Dehydrogenase, Short-Chain Deficiency [NCIt concept]
- Acyl-coa dehydrogenase, short-chain, deficiency of [OMIM Phenotype]
- SCAD deficiency [MedDRA LLT]
- Short chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Short-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short 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)
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
Record concept(s)
- Short chain Acyl CoA dehydrogenase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-CoA Dehydrogenase, Short-Chain Deficiency [NCIt concept]
- Acyl-coa dehydrogenase, short-chain, deficiency of [OMIM Phenotype]
- Butyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Deficiency of butyryl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- SCAD deficiency [MedDRA LLT]
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Short-chain acyl-CoA dehydrogenase deficiency [LOINC component]
- Short-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]

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