Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Preferred Label : Medium-Chain Acyl-CoA Dehydrogenase Deficiency;

NCIt synonyms : Acyl-CoA Dehydrogenase, Medium-Chain Deficiency;

NCIt related terms : Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; MCAD;

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

Détails

Origin ID

C84538;

UMLS CUI

C0220710;

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 [ICD-11 More detail]
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- 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]
- reye's syndrome [SNOMED Notion]
False automatic mappings
- MCAD [LOINC component]
- acyl-CoA dehydrogenase medium chain [ORDO Gene]
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 [MeSH concept]
- Medium chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- 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 [MeSH Supplementary Concept]
- medium chain acyl-CoA dehydrogenase deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ACADM Gene [NCIt concept]

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

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