Long-Chain Acyl-CoA Dehydrogenase Deficiency

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

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

NCIt related terms : Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; LCAD;

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

Details

Origin ID

C84537;

UMLS CUI

C0220711;

Automatic exact mappings (from CISMeF team)
- Acyl-coa dehydrogenase, long-chain [OMIM gene]
- Acyl-coa dehydrogenase, very long-chain, deficiency of [OMIM Phenotype]
- VLCAD deficiency [MeSH Supplementary Concept]
- acyl-CoA dehydrogenase long chain [ORDO Gene]
- long-chain acyl-coenzyme A dehydrogenase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- LCAD deficiency [MedDRA LLT]
- Long chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-chain acyl-CoA dehydrogenase deficiency [MeSH concept]
- Long-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- long-chain acyl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- acyl-CoA dehydrogenase long chain [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LCAD deficiency [MedDRA LLT]
- Long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Long chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-chain acyl-CoA dehydrogenase deficiency [MeSH concept]
- Long-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- long-chain acyl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ACADL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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