hydroxykynureninuria

Preferred Label : hydroxykynureninuria;

MeSH synonym : xanthurenic aciduria; kynureninase deficiency;

Origin ID

C536081;

UMLS CUI

C0268474;

CISMeF manual mappings
- Hydroxykynureninuria [ORDO Disease]
- hydroxykynureninuria [SNOMED Notion]
- xanthurenic aciduria [SNOMED Notion]
Currated CISMeF NLP mapping
- Encephalopathy due to hydroxykynureninuria [ICD-11 More detail]
- Hydroxykynureninuria [OMIM Phenotype]
- Hydroxykynureninuria (disorder) [SNOMED CT concept]
- Kynureninase deficiency (disorder) [SNOMED CT concept]
- Xanthurenic aciduria (finding) [SNOMED CT concept]
- kynureninase deficiency [SNOMED Notion]
Has phenotype(s) (HPO)
- Congenital deafness [HPO term]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- hydrolases [MeSH Descriptor]
- kynurenine [MeSH Descriptor]
Record concept(s)
- Hydroxykynureninuria [MeSH concept]
See also (suggested by CISMeF)
- kynureninase [MeSH Supplementary Concept]
- xanthurenic acid [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalopathy due to hydroxykynureninuria [ICD-11 More detail]
- Hydroxykynureninuria [OMIM Phenotype]
- Hydroxykynureninuria [ORDO Disease]
- Hydroxykynureninuria (disorder) [SNOMED CT concept]
- Kynureninase deficiency (disorder) [SNOMED CT concept]
- Xanthurenic aciduria (finding) [SNOMED CT concept]
- hydroxykynureninuria [SNOMED Notion]
- kynureninase deficiency [SNOMED Notion]
- xanthurenic aciduria [SNOMED Notion]