297237003: Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Galactose epimerase deficiency\Generalized uridine diphosphate galactose-4-epimerase deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Galactose epimerase deficiency\Generalized uridine diphosphate galactose-4-epimerase deficiency
• \Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\Galactose epimerase deficiency\Generalized uridine diphosphate galactose-4-epimerase deficiency

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
437721013	Generalized uridine diphosphate galactose-4-epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
437722018	Generalised uridine diphosphate galactose-4-epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
692547019	Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6283591000241116	déficit généralisé en galactose épimérase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6283601000241111	déficit généralisé en uridine diphosphate galactose-4-épimérase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6283611000241113	déficit généralisé en UDP-galactose-4-épimérase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410081001000118	Galaktose-Epimerase-Mangel, generalisierter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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