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 UDPglucose-hexose-1-phosphate uridylyltransferase
• \Disorder of carbohydrate metabolism\Galactose metabolism disorder\Galactosaemia\Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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