398664009: deficiëntie van uridinetrifosfaat-hexose-1-fosfaaturidylyltransferase (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	Galactosaemia	false	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Causative agent	UTP-hexose-1-phosphate uridylyltransferase	true	Inferred relationship	Some	1
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	aandoening bij drug of geneesmiddel (aandoening)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classical galactosemia, homozygous Duarte-type	Is a	True	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosemia, heterozygous type	Is a	True	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosemia, homozygous Negro-type	Is a	True	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1766583010	Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1778188017	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783653010	Transferase deficiency galactosaemia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1783654016	Classical galactosaemia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784041019	Transferase deficiency galactosemia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1784042014	Classical galactosemia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786510010	Deficiency of galactose-1-phosphate uridylyltransferase	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786511014	Galactose-1-phosphate uridyl transferase deficiency	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786512019	GALT deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786513012	Galactose-1-phosphate uridyltransferase deficiency	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1786514018	UTP-hexose-1-phosphate uridyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786515017	Deficiency of galactose-1-phosphate uridyl transferase	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914538014	Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914763012	Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6865121000146117	uridinetrifosfaat-hexose-1-fosfaaturidylyltransferasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6865131000146115	deficiëntie van uridinetrifosfaat-hexose-1-fosfaaturidylyltransferase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6918291000146112	UTP-hexose-1-fosfaaturidylyltransferasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9444261000146114	uridinetrifosfaat-hexose-1-fosfaaturidylyltransferasedeficiëntie (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9803011000146118	deficiëntie van UTP-hexose-1-fosfaaturidylyltransferase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9803021000146111	deficiëntie van uridinetrifosfaat-hexose-1-fosfaaturidylyltransferase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)