124354006: Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\Metabolic disease\...
• \Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase
• \Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosemia\Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
204123014	Deficiency of uridyl transferase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
204124015	Deficiency of hexose-1-phosphate uridylyltransferase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
204125019	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
728021015	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive	SNOMED CT core module
2881915013	GALT deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2881916014	Classical galactosemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2881917017	Deficiency of galactose-1-phosphate uridyl transferase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2881918010	Transferase deficiency galactosemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2881919019	Transferase deficiency galactosaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2881920013	Classical galactosaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2914855017	Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2915218017	Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start