purine nucleoside phosphorylase deficiency

Preferred Label : purine nucleoside phosphorylase deficiency;

MeSH note : mutation in purine nucleoside phosphorylase;

MeSH synonym : nucleoside phosphorylase deficiency; PNP deficiency;

Details

Origin ID

C562587;

UMLS CUI

C0268125;

Currated CISMeF NLP mapping
- Immunodeficiency due to purine nucleoside phosphorylase deficiency [ICD-11 More detail]
- 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 [NCIt concept]
- Purine-nucleoside phosphorylase deficiency (disorder) [SNOMED CT concept]
- purine nucleoside phosphorylase deficiency [DO Concept]
- purine-nucleoside phosphorylase deficiency [SNOMED Notion]
DO Cross reference
- purine nucleoside phosphorylase deficiency [DO Concept]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- Purine-Nucleoside phosphorylase [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- purine nucleoside phosphorylase deficiency [MeSH concept]
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 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 [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 [SNOMED Notion]

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