Very long chain acyl-CoA dehydrogenase deficiency

Preferred Label : Very long chain acyl-CoA dehydrogenase deficiency;

ICD-11 definition : Acyl-CoA dehydrogenase very long chain (VLCAD) deficiency is an inborn error of mitochondrial long-chain fatty acid oxidation with variable presentation including a severe form with recurrent episodes of hypoketotic hypoglycemia, often associated with hypertrophic cardiomyopathy with pericardial effusion, or arrythmia, which can lead to a cardiorespiratory arrest in neonates or infants.;

ICD-11 synonym : VLCAD - [Very long chain acyl-CoA dehydrogenase] deficiency; VLCAD deficiency;

Détails

Origin ID

907810567;

UMLS CUI

C3887523;

Automatic exact mappings (from CISMeF team)
- very long-chain acyl-coenzyme A dehydrogenase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Acyl-coa dehydrogenase, very long-chain, deficiency of [OMIM Phenotype]
- VLCAD deficiency [MeSH Supplementary Concept]
- VLCAD deficiency [MedDRA LLT]
- VLCAD deficiency [MeSH concept]
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Very long-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- very long chain acyl-CoA dehydrogenase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-coa dehydrogenase, very long-chain, deficiency of [OMIM Phenotype]
- VLCAD deficiency [MedDRA LLT]
- VLCAD deficiency [MeSH Supplementary Concept]
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Very long-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- very long chain acyl-CoA dehydrogenase deficiency [DO Concept]

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

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