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8849004: Uridine diphosphate glucose-4-epimerase deficiency (disorder)

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
15606019 UDPglucose-4-epimerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
15607011 Galactose epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (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) Active Entire term case sensitive (core metadata concept) SNOMED CT core
15609014 Uridine diphosphate galactose-4 epimerase deficiency en Synonym (core metadata concept) Active Only initial character 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
15610016 GALE en Synonym (core metadata concept) Active 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 Active Only initial character case insensitive (core metadata concept) SNOMED CT core
831185010 UDPglucose-4-epimerase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1217060017 Galactosaemia - epimerase deficiency 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 Only initial character 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 Only initial character 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 Only initial character 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 Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2621311018 Uridine diphosphate (UDP) glucose-4-epimerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914071016 Uridine diphosphate glucose-4-epimerase deficiency en Synonym (core metadata concept) Active 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 Only initial character 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
3445421001000110 Galaktose-Epimerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445421001000110 Galaktose-Epimerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Uridine diphosphate glucose-4-epimerase deficiency (disorder) Is a Galactosaemia true Inferred relationship Existential restriction modifier (core metadata concept)
Uridine diphosphate glucose-4-epimerase deficiency (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Uridine diphosphate glucose-4-epimerase deficiency (disorder) Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Uridine diphosphate glucose-4-epimerase deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Generalized uridine diphosphate galactose-4-epimerase deficiency Is a True Uridine diphosphate glucose-4-epimerase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency Is a True Uridine diphosphate glucose-4-epimerase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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