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

12739891000172111 déficit généralisé en galactose épimérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12739901000172110 déficit généralisé en uridine diphosphate galactose-4-épimérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12739911000172113 déficit généralisé en UDP-galactose-4-épimérase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4555521000172116 gegeneraliseerde deficiëntie van UDP-galactose-4-epimerase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4555531000172118 gegeneraliseerde deficiëntie van uridinedifosfaatgalactose-4-epimerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4555541000172113 gegeneraliseerde UDP-galactose-4-epimerasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Generalized uridine diphosphate galactose-4-epimerase deficiency	Is a	Galactose epimerase deficiency	true	Inferred relationship	Some
Generalized uridine diphosphate galactose-4-epimerase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets