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:

Id Description Lang Type Status Case? Module

15607011 Galactose epimerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (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

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

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

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

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