xanthinuria - CISMeF

Preferred Label : xanthinuria;

Query (CISMeF) : xanthinurie.ti ou (xanthine/urine.mc ou xanthinurie type I.sc ou xanthinurie type II.sc);

PubMed query (by CISMeF) : %22xanthinuria%22[TIAB] OR (%22xanthine/urine%22[MH] OR %22xanthinuria, type I%22[NM] OR %22xanthinuria, type II%22[NM])

Origin ID

SR99999037;

UMLS CUI

C0220988;

Automatic exact mappings (from CISMeF team)
- Xanthinuria [OMIM phenotypic series]
CISMeF manual mappings
- Xanthinuria [HPO term]
Currated CISMeF NLP mapping
- Hereditary xanthinuria [ORDO Disease]
- Hereditary xanthinuria (disorder) [SNOMED CT concept]
- Isolated xanthine oxidase deficiency (disorder) [SNOMED CT concept]
- Xanthinuria [PASCAL descriptor]
- Xanthinuria [ICD-11 Sub-sub category]
- Xanthinuria (disorder) [SNOMED CT concept]
- hereditary xanthinuria, nos [SNOMED Notion]
- isolated xanthine oxidase deficiency [SNOMED Notion]
- xanthinuria [DO Concept]
See also inter- (CISMeF)
- xanthine [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary xanthinuria [ORDO Disease]
- Hereditary xanthinuria (disorder) [SNOMED CT concept]
- Xanthinuria [HPO term]
- Xanthinuria [PASCAL descriptor]
- Xanthinuria [ICD-11 Sub-sub category]
- Xanthinuria (disorder) [SNOMED CT concept]
- hereditary xanthinuria, nos [SNOMED Notion]
- xanthinuria [DO Concept]
Validated automatic mappings to BTNT
- Deficiency of xanthine oxidase (disorder) [SNOMED CT concept]
- Xanthinuria type 1 [ICD-11 More detail]
- Xanthinuria, type I [OMIM Phenotype]