Inosine triphosphate pyrophosphohydrolase deficiency

Preferred Label : Inosine triphosphate pyrophosphohydrolase deficiency;

ICD-11 definition : This refers to deficiency an enzyme that in humans is encoded by the ITPA gene, by the rdgB gene in bacteria E.coli and the HAM1 gene in yeast S. cerevisiae.;

ICD-11 synonym : ITPase deficiency;

Details

Origin ID

1372508262;

UMLS CUI

C0342800;

Currated CISMeF NLP mapping
- Inosine Triphosphatase Deficiency [NCIt concept]
- Inosine triphosphatase deficiency [OMIM Phenotype]
- Inosine triphosphatase deficiency [ORDO Disease]
- Inosine triphosphate pyrophosphohydrolase deficiency (disorder) [SNOMED CT concept]
- inosine triphosphatase deficiency [MeSH concept]
- inosine triphosphatase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inosine Triphosphatase Deficiency [NCIt concept]
- Inosine triphosphatase deficiency [OMIM Phenotype]
- Inosine triphosphatase deficiency [ORDO Disease]
- Inosine triphosphate pyrophosphohydrolase deficiency (disorder) [SNOMED CT concept]
- inosine triphosphatase deficiency [MeSH concept]
- inosine triphosphatase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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