Purine Nucleoside Phosphorylase Deficiency

Preferred Label : Purine Nucleoside Phosphorylase Deficiency;

NCIt synonyms : PNPD; PNP Deficiency;

NCIt definition : A rare autosomal recessive immunodeficiency caused by mutation(s) in the PNP gene, encoding purine nucleoside phosphorylase. It is characterized by recurrent infections resulting from severe T-cell dysfunction.;

NCI Metathesaurus CUI : CL1642625;

Details

Origin ID

C176817;

UMLS CUI

C0268125;

Automatic exact mappings (from CISMeF team)
- Purine nucleoside phosphorylase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Immunodeficiency due to purine nucleoside phosphorylase deficiency [ICD-11 More detail]
- 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 (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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency due to purine nucleoside phosphorylase deficiency [ICD-11 More detail]
- 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 (disorder) [SNOMED CT concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- purine nucleoside phosphorylase deficiency [MeSH concept]
- purine nucleoside phosphorylase deficiency [DO Concept]
- purine-nucleoside phosphorylase deficiency [SNOMED Notion]
disease_mapped_to_gene
- PNP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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