Immunodeficiency due to purine nucleoside phosphorylase deficiency

Preferred Label : Immunodeficiency due to purine nucleoside phosphorylase deficiency;

ICD-11 definition : Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor).;

ICD-11 synonym : deficiency of inosine phosphorylase; NP deficiency; PNP deficiency; deficiency of purine-nucleoside phosphorylase; NP - [nucleoside phosphorylase] deficiency; Nucleoside phosphorylase deficiency; PNP - [purine nucleoside phosphorylase] deficiency;

Details

Origin ID

1771940876;

UMLS CUI

C0268125;

Currated CISMeF NLP mapping
- Purine Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine nucleoside phosphorylase [PNP] deficiency [ICD-10 Sub-category]
- Purine nucleoside phosphorylase deficiency [ORDO Disease]
- Purine nucleoside phosphorylase deficiency [OMIM Phenotype]
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine-nucleoside phosphorylase deficiency (disorder) [SNOMED CT concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- purine nucleoside phosphorylase deficiency [DO Concept]
- purine nucleoside phosphorylase deficiency [MeSH concept]
- purine-nucleoside phosphorylase deficiency [SNOMED Notion]
See also inter- (CISMeF)
- Purine nucleoside phosphorylase [LOINC component]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Purine Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine nucleoside phosphorylase [PNP] deficiency [ICD-10 Sub-category]
- Purine nucleoside phosphorylase deficiency [OMIM Phenotype]
- Purine nucleoside phosphorylase deficiency [ORDO Disease]
- Purine nucleoside phosphorylase deficiency [MedDRA Preferred Term]
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine-nucleoside phosphorylase deficiency (disorder) [SNOMED CT concept]
- purine nucleoside phosphorylase deficiency [DO Concept]
- purine nucleoside phosphorylase deficiency [MeSH concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- purine-nucleoside phosphorylase deficiency [SNOMED Notion]

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