fumaric aciduria

Preferred Label : fumaric aciduria;

CISMeF synonym : fumarase deficiency;

MeSH synonym : fumaricaciduria;

Related MeSH term : Fumarate Hydratase Deficiency;

Details

Origin ID

C538191;

UMLS CUI

C2936826;

Automatic exact mappings (from CISMeF team)
- Deficiency of fumarate hydratase (disorder) [SNOMED CT concept]
- fumarase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Fumarase deficiency [ICD-11 More detail]
- Fumarase deficiency [OMIM Phenotype]
- Fumarase deficiency (disorder) [SNOMED CT concept]
- Fumaric aciduria [ORDO Disease]
DO Cross reference
- fumarase deficiency [DO Concept]
MeSH term(s) associated for indexing
- fumarate hydratase [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- psychomotor disorders [MeSH Descriptor]
ORDO relation(s)
- Fumaric aciduria [ORDO Disease]
Record concept(s)
- Fumarase deficiency [MeSH concept]
- Fumaric aciduria [MeSH concept]
See also (suggested by CISMeF)
- fumaric acid [MeSH Supplementary Concept]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

Main resources

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