124352005: Deficiency of uridine triphosphate-glucose-1-phosphate uridylyltransferase (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of UTP-glucose-1-phosphate uridylyltransferase

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
204113017	Deficiency of glucose-1-phosphate uridylyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
204114011	Deficiency of UDPglucose pyrophosphorylase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
204115012	Deficiency of UTP-glucose-1-phosphate uridylyltransferase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2982457011	Deficiency of uridine triphosphate-glucose-1-phosphate uridylyltransferase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2982541013	Deficiency of uridine triphosphate-glucose-1-phosphate uridylyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5685991000172118	déficit en UTP-glucose-1-phosphate uridylyltransférase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4835901000172119	UTP-glucose-1-fosfaaturidylyltransferasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4835911000172116	deficiëntie van uridinetrifosfaat-glucose-1-fosfaaturidylyltransferase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4835921000172114	deficiëntie van UTP-glucose-1-fosfaaturidylyltransferase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4835931000172112	deficiëntie van UDP-glucosepyrofosforylase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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