VLCAD deficiency

Preferred Label : VLCAD deficiency;

MeSH synonym : very long-chain acyl-CoA dehydrogenase deficiency; Acyl-CoA dehydrogenase, very Long-Chain, deficiency of; Vlcad-H; acadvl; Acyl-Coa dehydrogenase very long chain deficiency; very Long-Chain acyl coenzyme A dehydrogenase deficiency; very Long-Chain Acyl-Coenzyme A dehydrogenase deficiency; Vlcad-C;

Related MeSH term : Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; Pearson Marrow-Pancreas Syndrome; Pearson's marrow-pancreas syndrome;

Détails

Origin ID

C536353;

UMLS CUI

C3887523;

Automatic exact mappings (from CISMeF team)
- ACADVL Gene [NCIt concept]
- Acyl-coa dehydrogenase, very long-chain [OMIM gene]
- Congenital hypoplastic anaemia [ICD-11 Category]
- Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Pearson Syndrome [NCIt concept]
- Pearson marrow-pancreas syndrome [OMIM Phenotype]
- Pearson syndrome [DO Concept]
- acyl-CoA dehydrogenase very long chain [ORDO Gene]
- very long-chain acyl-coenzyme A dehydrogenase deficiency [Artificial nutrition thesaurus concept]
CISMeF manual mappings
- Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acyl-coa dehydrogenase, very long-chain, deficiency of [OMIM Phenotype]
- VLCAD deficiency [MedDRA LLT]
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Very long chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Very long-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- very long chain acyl-CoA dehydrogenase deficiency [DO Concept]
MeSH term(s) associated for indexing
- Acyl-CoA dehydrogenase, Long-Chain [MeSH Descriptor]
- Congenital Bone Marrow Failure Syndromes [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- Pearson syndrome [MeSH concept]
- VLCAD deficiency [MeSH concept]
See also inter- (CISMeF)
- Very Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial [NCIt 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]
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt 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]

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

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