Short chain acyl-CoA dehydrogenase deficiency

Preferred Label : Short chain acyl-CoA dehydrogenase deficiency;

ICD-11 definition : Acyl-CoA dehydrogenase, short chain (SCAD) deficiency is an inborn error of mitochondrial short-chain fatty acid oxidation with variable clinical presentation (muscle tone abnormalities, hypoglycemia and vomiting at birth, or more frequently, a milder and aspecific form with hypotonia and developmental delay) and overexcretion of urinary ethylmalonic acid, and inconstantly of methylsuccinic acid and butyrylglycine.;

ICD-11 synonym : Butyryl-CoA dehydrogenase deficiency; SCAD deficiency; SCAD - [Short chain acyl-CoA dehydrogenase] deficiency;

Details

Origin ID

180018315;

UMLS CUI

C0342783;

Automatic exact mappings (from CISMeF team)
- Butyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Short chain acyl coenzyme A dehydrogenase (substance) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acyl-CoA Dehydrogenase, Short-Chain Deficiency [NCIt concept]
- Acyl-coa dehydrogenase, short-chain, deficiency of [OMIM Phenotype]
- Deficiency of butyryl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- SCAD deficiency [MedDRA LLT]
- Short chain Acyl CoA dehydrogenase deficiency [MeSH concept]
- 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 [MeSH Supplementary Concept]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]
See also inter- (CISMeF)
- Butyryl-CoA dehydrogenase [MeSH Descriptor]
- Short-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial [NCIt concept]
- butyryl-coa dehydrogenase [SNOMED Notion]
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 [MeSH concept]
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- 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 [MeSH Supplementary Concept]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]

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