malonic aciduria

Preferred Label : malonic aciduria;

MeSH synonym : Malonyl-CoA decarboxylase deficiency; malonicaciduria; Malonyl-Coenzyme A Decarboxylase Deficiency;

Details

Origin ID

C535702;

UMLS CUI

C0342793;

Currated CISMeF NLP mapping
- Deficiency of malonyl-coenzyme A decarboxylase (disorder) [SNOMED CT concept]
- Malonic aciduria [ICD-11 More detail]
- Malonic aciduria [ORDO Disease]
- Malonic aciduria (disorder) [SNOMED CT concept]
- Malonyl-coa decarboxylase deficiency [OMIM Phenotype]
- malonic aciduria [Disease (Nov.)]
MeSH term(s) associated for indexing
- carboxy-lyases [MeSH Descriptor]
- malonyl coenzyme a [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- methylmalonic acid [MeSH Descriptor]
ORDO relation(s)
- Malonic aciduria [ORDO Disease]
Record concept(s)
- Malonic aciduria [MeSH concept]
See also (suggested by CISMeF)
- malonyl-CoA decarboxylase [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Deficiency of malonyl-coenzyme A decarboxylase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of malonyl-coenzyme A decarboxylase (disorder) [SNOMED CT concept]
- Malonic aciduria [ORDO Disease]
- Malonic aciduria [ICD-11 More detail]
- Malonic aciduria (disorder) [SNOMED CT concept]
- Malonyl-coa decarboxylase deficiency [OMIM Phenotype]
- malonic aciduria [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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