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124353000: Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder)

Status: retired, Primitive. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204118014 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym Active Case insensitive SNOMED CT core

204119018 Deficiency of galactose-1-phosphate uridyl transferase en Synonym Active Case insensitive SNOMED CT core

204120012 Deficiency of UTP-hexose-1-phosphate uridylyltransferase en Synonym Active Initial character case insensitive SNOMED CT core

473318018 Classical galactosemia en Synonym Active Case insensitive SNOMED CT core

473319014 Galactose-1-phosphate uridyltransferase deficiency en Synonym Active Case insensitive SNOMED CT core

473320015 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym Active Case sensitive SNOMED CT core

473321016 Galactose-1-phosphate uridyl transferase deficiency en Synonym Active Case insensitive SNOMED CT core

473322011 GALT en Synonym Active Case sensitive SNOMED CT core

473323018 Transferase deficiency galactosaemia en Synonym Active Case insensitive SNOMED CT core

473324012 Transferase deficiency galactosemia en Synonym Active Case insensitive SNOMED CT core

473325013 Classical galactosaemia en Synonym Active Case insensitive SNOMED CT core

728019013 Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	Deficiency of transferase	false	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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Classical galactosaemia, heterozygous type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosaemia, homozygous Negro-type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosaemia, homozygous Duarte-type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

Id	Description	Lang	Type	Status	Case?	Module
204118014	Deficiency of galactose-1-phosphate uridylyltransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
204119018	Deficiency of galactose-1-phosphate uridyl transferase	en	Synonym	Active	Case insensitive	SNOMED CT core
204120012	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
473318018	Classical galactosemia	en	Synonym	Active	Case insensitive	SNOMED CT core
473319014	Galactose-1-phosphate uridyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
473320015	UTP-hexose-1-phosphate uridyltransferase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
473321016	Galactose-1-phosphate uridyl transferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
473322011	GALT	en	Synonym	Active	Case sensitive	SNOMED CT core
473323018	Transferase deficiency galactosaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
473324012	Transferase deficiency galactosemia	en	Synonym	Active	Case insensitive	SNOMED CT core
473325013	Classical galactosaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
728019013	Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core