Acyl-CoA dehydrogenase family, member 9, deficiency of - CISMeF

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CISMeF

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Acyl-CoA dehydrogenase family, member 9, deficiency ofMeSH Supplementary Concept

Preferred Label : Acyl-CoA dehydrogenase family, member 9, deficiency of;

Details

Origin ID

C567006;

UMLS CUI

C1970173;

Currated CISMeF NLP mapping
- ACAD9 deficiency [MedDRA Preferred Term]
- Acyl-CoA dehydrogenase 9 deficiency [ORDO Disease]
- Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) [SNOMED CT concept]
- Mitochondrial complex I deficiency, nuclear type 20 [OMIM Phenotype]
- acyl-CoA dehydrogenase 9 deficiency [Artificial nutrition thesaurus concept]
- nuclear type mitochondrial complex I deficiency 20 [DO Concept]
MeSH term(s) associated for indexing
- Acyl-CoA dehydrogenase [MeSH Descriptor]
- acidosis [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
- cardiomyopathy, hypertrophic [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- muscle weakness [MeSH Descriptor]
Record concept(s)
- Acyl-CoA dehydrogenase family, member 9, deficiency of [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ACAD9 deficiency [MedDRA Preferred Term]
- Acyl-CoA dehydrogenase 9 deficiency [ORDO Disease]
- Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) [SNOMED CT concept]
- Mitochondrial complex I deficiency, nuclear type 20 [OMIM Phenotype]
- nuclear type mitochondrial complex I deficiency 20 [DO Concept]

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21/05/2024

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