Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

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

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

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

NCIt definition : An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis.;

Details

Origin ID

C98647;

UMLS CUI

C3887523;

Currated CISMeF NLP mapping
- Acyl-coa dehydrogenase, very long-chain, deficiency of [OMIM Phenotype]
- Pearson syndrome [Disease (Nov.)]
- VLCAD deficiency [MeSH Supplementary Concept]
- VLCAD deficiency [MeSH concept]
- VLCAD deficiency [MedDRA LLT]
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Very long chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- 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]
See also inter- (CISMeF)
- Acyl-CoA dehydrogenase, Long-Chain [MeSH Descriptor]
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 [ORDO Disease]
- Very long chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ACADVL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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