Inosine Triphosphatase Deficiency

Preferred Label : Inosine Triphosphatase Deficiency;

NCIt definition : An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.;

Details

Origin ID

C129974;

UMLS CUI

C0342800;

Currated CISMeF NLP mapping
- Inosine triphosphatase deficiency [ORDO Disease]
- Inosine triphosphatase deficiency [OMIM Phenotype]
- Inosine triphosphate pyrophosphohydrolase deficiency [ICD-11 More detail]
- 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 [ORDO Disease]
- Inosine triphosphatase deficiency [OMIM Phenotype]
- Inosine triphosphate pyrophosphohydrolase deficiency [ICD-11 More detail]
- Inosine triphosphate pyrophosphohydrolase deficiency (disorder) [SNOMED CT concept]
- inosine triphosphatase deficiency [MeSH Supplementary Concept]
- inosine triphosphatase deficiency [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ITPA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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