Isovaleric Acidemia

Preferred Label : Isovaleric Acidemia;

NCIt synonyms : Isovalericacidemia;

NCIt related terms : Isovaleryl-CoA Dehydrogenase Deficiency;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.;

Details

Origin ID

C98964;

UMLS CUI

C0268575;

Automatic exact mappings (from CISMeF team)
- Increased circulating isovaleric acid concentration [HPO term]
- Isovaleric acidaemia [MedDRA Preferred Term]
- Isovaleric acidemia [MedDRA LLT]
- Isovaleric acidemia [LOINC component]
- isovaleric acidemia [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Acidemia, isovaleric [MeSH 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 (who)]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category]
- acidemia, isovaleric [MeSH Supplementary Concept]
- isovaleric acidemia [DO Concept]
- isovaleryl-coa dehydrogenase deficiency [SNOMED Notion]
DO Cross reference
- isovaleric acidemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acidemia, isovaleric [MeSH 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)]
- acidemia, isovaleric [MeSH Supplementary Concept]
- isovaleric acidemia [DO Concept]
- isovaleryl-coa dehydrogenase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- IVD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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