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190764000: Essential pentosuria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
293235014 L-xylulose reductase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
293236010 L-xylulosuria en Synonym Active Entire term case sensitive SNOMED CT core module
293237018 Xylitol dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
293238011 Essential pentosuria en Synonym Active Entire term case insensitive SNOMED CT core module
574387018 Essential pentosuria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2967375010 Essential benign pentosuria en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Essential pentosuria Is a Disorder of carbohydrate metabolism false Inferred relationship Existential restriction modifier
Essential pentosuria Finding site Body system structure false Inferred relationship Existential restriction modifier
Essential pentosuria Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Essential pentosuria Is a Pentose disorder true Inferred relationship Existential restriction modifier
Essential pentosuria Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Essential pentosuria Is a Enzymopathy true Inferred relationship Existential restriction modifier
Essential pentosuria Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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