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124354006: Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder)


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 Reference Sets
204123014 Deficiency of uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
204124015 Deficiency of 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)
204125019 Deficiency of UDPglucose-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)
2881915013 GALT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2881916014 Classical galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
2881917017 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2881918010 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
2881919019 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2881920013 Classical galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
2914855017 Deficiency of uridine diphosphate-glucose-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)
2915218017 Deficiency of uridine diphosphate-glucose-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)
971561000052117 brist på UDP-glukos-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)

0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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