190764000: Essential pentosuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Essential pentosuria (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Essential pentosuria (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Essential pentosuria (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Essential pentosuria (disorder)
\Metabolic disease\Enzymopathy\Essential pentosuria (disorder)
\Metabolic disease\Disorder of carbohydrate metabolism\Pentose disorder\Essential pentosuria (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

293235014 L-xylulose reductase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

293236010 L-xylulosuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

293237018 Xylitol dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293238011 Essential pentosuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

574387018 Essential pentosuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2967375010 Essential benign pentosuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

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Reference Sets

Description inactivation indicator reference set