8849004: Uridine diphosphate glucose-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

\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Galactose epimerase deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\Galactose epimerase deficiency

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Galactose epimerase deficiency	Is a	Galactosaemia	true	Inferred relationship	Some
Galactose epimerase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Galactose epimerase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Galactose epimerase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Generalized uridine diphosphate galactose-4-epimerase deficiency	Is a	True	Galactose epimerase deficiency	Inferred relationship	Some
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency	Is a	True	Galactose epimerase deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
15606019	UDPglucose-4-epimerase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
15607011	Galactose epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
15608018	UDPgalactose-4-epimerase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
15609014	Uridine diphosphate galactose-4 epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
15610016	GALE	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
15611017	Galactosemia III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
508057016	Galactosaemia III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
831185010	UDPglucose-4-epimerase deficiency (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217060017	Galactosaemia - epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218548013	Galactosemia - epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235351010	Epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235352015	Uridine diphosphate galactose-4-epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2612732012	Uridine diphosphate (UDP) glucose-4-epimerase deficiency (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2621311018	Uridine diphosphate (UDP) glucose-4-epimerase deficiency	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914071016	Uridine diphosphate glucose-4-epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2915144010	Uridine diphosphate glucose-4-epimerase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244092019	GALE (UDP-galactose-4-epimerase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244093012	UDP (uridine diphosphate) galactose-4-epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244094018	UDP (uridine diphosphate) glucose-4-epimerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5659571000172118	déficit en uridine diphosphate (UDP) glucose-4-épimérase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4797911000172115	UDP-glucose-4-epimerasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4797921000172113	uridinedifosfaatglucose-4-epimerasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4797931000172111	deficiëntie van uridinedifosfaatglucose-4-epimerase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)