AICAR transformylase inosine monophosphate cyclohydrolase deficiency

Preferred Label : AICAR transformylase inosine monophosphate cyclohydrolase deficiency;

MeSH synonym : AICA ribosuria due to ATIC deficiency;

Details

Origin ID

C563876;

UMLS CUI

C1837530;

Currated CISMeF NLP mapping
- 5-amino-4-imidazole carboxamide ribosiduria (disorder) [SNOMED CT concept]
- AICA ribosiduria [Disease (Nov.)]
- AICA-ribosiduria [ORDO Disease]
- AICAR transformylase deficiency [ICD-11 More detail]
- Aica-ribosuria due to atic deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- congenital abnormalities [MeSH Descriptor]
- epilepsy [MeSH Descriptor]
- hydroxymethyl and formyl transferases [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- nucleotide deaminases [MeSH Descriptor]
Record concept(s)
- AICAR transformylase inosine monophosphate cyclohydrolase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5-amino-4-imidazole carboxamide ribosiduria (disorder) [SNOMED CT concept]
- AICA-ribosiduria [ORDO Disease]
- Aica-ribosuria due to atic deficiency [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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