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\Uridine diphosphate glucose-4-epimerase deficiency (disorder)\Generalized uridine diphosphate galactose-4-epimerase deficiency

\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Uridine diphosphate glucose-4-epimerase deficiency (disorder)\Generalized uridine diphosphate galactose-4-epimerase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\Uridine diphosphate glucose-4-epimerase deficiency (disorder)\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

437721013 Generalized uridine diphosphate galactose-4-epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

3410081001000118 Galaktose-Epimerase-Mangel, generalisierter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Generalized uridine diphosphate galactose-4-epimerase deficiency	Is a	Uridine diphosphate glucose-4-epimerase deficiency (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized uridine diphosphate galactose-4-epimerase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets