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398664009: Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder)


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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
1786514018 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
988851000052118 brist på UTP-hexos-1-fosfaturidylyltransferas sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

3 descendants. Search Descendants:

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 Drug-related disorder 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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