purine-nucleoside phosphorylase deficiency - CISMeF

" /> purine-nucleoside phosphorylase deficiency - CISMeF

CISMeF

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Purine-nucleoside phosphorylase deficiencySNOMED Notion

Preferred Label : purine-nucleoside phosphorylase deficiency;

Details

Origin ID

D6-40900;

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 [MeSH concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
Has phenotype(s) (HPO)
- Idiopathic thrombocytopenia [HPO term]
- Urinary tract infections [HPO term]
ICD-10 exact mapping(s)
- Other disorders of purine and pyrimidine metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Combined T and B cell immunodeficiency [ORDO Disease]
- Disorder of purine metabolism [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- purine-nucleoside phosphorylase [SNOMED Notion]
SNOMED CT concept
- Purine-nucleoside phosphorylase deficiency (disorder) [SNOMED CT 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 [MeSH Supplementary Concept]
- purine nucleoside phosphorylase deficiency [MeSH concept]
- purine nucleoside phosphorylase deficiency [DO Concept]

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14/06/2025

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