Acyl-CoA Dehydrogenase, Short-Chain Deficiency

Preferred Label : Acyl-CoA Dehydrogenase, Short-Chain Deficiency;

NCIt synonyms : Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD); Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD); SCAD;

NCIt definition : A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive.;

Détails

Origin ID

C84539;

UMLS CUI

C0342783;

Currated CISMeF NLP mapping
- 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 [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 [MeSH Supplementary Concept]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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-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 [MeSH Supplementary Concept]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
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- ACADS Gene [NCIt concept]

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

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