xanthinuria, type I

Preferred Label : xanthinuria, type I;

MeSH note : mutation in xanthine dehydrogenase (XDH);

MeSH synonym : xanthine oxidase deficiency; XDH deficiency; xanthine dehydrogenase deficiency;

Détails

Origin ID

C562584;

UMLS CUI

C0268118;

Currated CISMeF NLP mapping
- Deficiency of xanthine oxidase (disorder) [SNOMED CT concept]
- Hereditary xanthinuria type 1 (disorder) [SNOMED CT concept]
- Isolated xanthine oxidase deficiency (disorder) [SNOMED CT concept]
- Reduced xanthine dehydrogenase level [HPO term]
- Xanthinuria type 1 [ICD-11 More detail]
- Xanthinuria type I [ORDO Disease]
- Xanthinuria, type I [OMIM Phenotype]
- isolated xanthine oxidase deficiency [SNOMED Notion]
- xanthinuria [DO Concept]
DO Cross reference
- xanthinuria [DO Concept]
HPO term
- Reduced xanthine dehydrogenase level [HPO term]
MeSH term(s) associated for indexing
- metabolism, inborn errors [MeSH Descriptor]
- xanthine dehydrogenase [MeSH Descriptor]
Record concept(s)
- xanthinuria, type I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of xanthine oxidase (disorder) [SNOMED CT concept]
- Hereditary xanthinuria type 1 (disorder) [SNOMED CT concept]
- Isolated xanthine oxidase deficiency (disorder) [SNOMED CT concept]
- Xanthinuria type 1 [ICD-11 More detail]
- Xanthinuria type I [ORDO Disease]
- Xanthinuria, type I [OMIM Phenotype]
- isolated xanthine oxidase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Hereditary xanthinuria [ORDO Disease]

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