purine nucleoside phosphorylase deficiency

Preferred Label : purine nucleoside phosphorylase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0562887;

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]
Related record
- purine nucleoside phosphorylase deficiency [MeSH Supplementary 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]