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

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\Deficiency of UDPglucose-hexose-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

204123014 Deficiency of uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204124015 Deficiency of hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

2881915013 GALT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2881916014 Classical galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2881917017 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2881918010 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2881919019 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2881920013 Classical galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

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

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

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Characteristic

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This concept is not in any reference sets