xanthinuria, type II - CISMeF

CISMeF

chu

Xanthinuria, type IIMeSH Supplementary Concept

Preferred Label : xanthinuria, type II;

MeSH synonym : xanthine dehydrogenase and aldehyde oxidase, combined deficiency of;

Details

Origin ID

C566358;

UMLS CUI

C1863688;

Currated CISMeF NLP mapping
- Combined molybdoflavoprotein enzyme deficiency (disorder) [SNOMED CT concept]
- Xanthinuria type 2 [ICD-11 More detail]
- Xanthinuria type II [ORDO Disease]
- Xanthinuria, type II [OMIM Phenotype]
- combined molybdoflavoprotein enzyme deficiency [SNOMED Notion]
DO Cross reference
- xanthinuria [DO Concept]
MeSH term(s) associated for indexing
- aldehyde oxidase [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
- xanthine [MeSH Descriptor]
- xanthine dehydrogenase [MeSH Descriptor]
Record concept(s)
- xanthinuria, type II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Xanthinuria type II [ORDO Disease]
- Xanthinuria, type II [OMIM Phenotype]
Validated automatic mappings to NTBT
- Hereditary xanthinuria [ORDO Disease]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
03/07/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.