OMOP Concept 4098480
Essential pentosuria
StandardConditionSNOMED190764000Disorder
Maps from
6
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
6 source codes normalize to Essential pentosuria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 140982 | Essential pentosuria | Non-standard |
| CIEL | 140989 | Essential benign pentosuria | Non-standard |
| MeSH | C536652 | Pentosuria | Non-standard |
| Nebraska Lexicon | 190764000 | Essential benign pentosuria | Non-standard |
| Read | C31y000 | Essential benign pentosuria | Non-standard |
| Read | C31y400 | Xylosuria | Non-standard |
Synonyms
Alternative names recorded for Essential pentosuria across source vocabularies.
- deficiencia de xilitol deshidrogenasa
- Essential benign pentosuria
- Essential pentosuria (disorder)
- L-xilulosuria
- L-xylulose reductase deficiency
- L-xylulosuria
- pentosuria esencial
- pentosuria esencial (trastorno)
- Xylitol dehydrogenase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Enzymopathy
- 1Inborn error of metabolism
- 1Pentose disorder
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Disorder of carbohydrate metabolism
- 2Hereditary metabolic disease
- 2Metabolic disease
- 3Disease
- 3Disorder of fetus and/or newborn
- 3Hereditary disease
- 4Clinical finding
- 4Genetic disease
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