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:

Id Description Lang Type Status Case? Module

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

1786514018 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (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

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)

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)

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