Essential pentosuria

Preferred Label : Essential pentosuria;

ICD-11 definition : Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. Pentosuria is benign and shows no symptoms.;

ICD-11 synonym : L-xylulosuria; L-xylulose reductase deficiency; Xylitol dehydrogenase deficiency;

Details

Origin ID

229172147;

UMLS CUI

C0268162;

Automatic exact mappings (from CISMeF team)
- D-Xylulose reductase [MeSH Descriptor]
- pentosuria [DO Concept]
Currated CISMeF NLP mapping
- Essential pentosuria (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Essential pentosuria (disorder) [SNOMED CT concept]
- Pentosuria [MedDRA Preferred Term]
- Pentosuria [OMIM Phenotype]
- Pentosuria [MeSH concept]
- Pentosuria [ORDO Disease]
- essential benign pentosuria [SNOMED Notion]
- pentosuria [DO Concept]
- pentosuria [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Other specified disorders of carbohydrate metabolism [ICD-10 Sub-category]
- Pentosuria [ORDO Disease]
- Pentosuria [OMIM Phenotype]
- pentosuria [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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