acidemia, isovaleric

Preferred Label : acidemia, isovaleric;

MeSH synonym : isovaleric acid CoA dehydrogenase deficiency; isovaleric acidemia; isovaleryl CoA carboxylase deficiency; Isovaleryl-CoA Dehydrogenase Deficiency; Isovaleric Acid-CoA Dehydrogenase Deficiency;

Détails

Origin ID

C538167;

UMLS CUI

C0268575;

Automatic exact mappings (from CISMeF team)
- Isovaleric acidaemia [MedDRA Preferred Term]
- Isovaleric acidemia [MedDRA LLT]
- Isovaleric acidemia [LOINC component]
- isovaleric acidemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Isovaleric Acidemia [NCIt concept]
- Isovaleric acidemia [PASCAL descriptor]
- Isovaleric acidemia [OMIM Phenotype]
- Isovaleric acidemia [ORDO Disease]
- Isovaleric aciduria [ICD-11 More detail]
- Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- isovaleric acidemia [DO Concept]
- isovaleryl-coa dehydrogenase deficiency [SNOMED Notion]
DO Cross reference
- isovaleric acidemia [DO Concept]
MeSH term(s) associated for indexing
- Isovaleryl-CoA dehydrogenase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Isovaleric acidemia [ORDO Disease]
Record concept(s)
- Acidemia, isovaleric [MeSH concept]
See also (suggested by CISMeF)
- isovaleric acid [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isovaleric Acidemia [NCIt concept]
- Isovaleric acidaemia [MedDRA Preferred Term]
- Isovaleric acidemia [ORDO Disease]
- Isovaleric acidemia [OMIM Phenotype]
- Isovaleric acidemia [PASCAL descriptor]
- Isovaleric acidemia [LOINC component]
- Isovaleric acidemia [MedDRA LLT]
- Isovaleric aciduria [ICD-11 More detail]
- Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- isovaleric acidemia [DO Concept]
- isovaleryl-coa dehydrogenase deficiency [SNOMED Notion]

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