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

SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	est un(e) (attribut)	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	est un(e) (attribut)	Galactosaemia	false	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Causative agent	Uridine triphosphate-hexose-1-phosphate uridylyltransferase (substance)	true	Inferred relationship	Some	1
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	est un(e) (attribut)	Drug-related disorder	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classical galactosemia, homozygous Duarte-type	est un(e) (attribut)	True	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosaemia, heterozygous type	est un(e) (attribut)	True	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosemia, homozygous Negro-type	est un(e) (attribut)	True	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set