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

Status: retired, 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

204118014 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204119018 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204120012 Deficiency of UTP-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

473318018 Classical galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473319014 Galactose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473320015 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

473321016 Galactose-1-phosphate uridyl transferase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473322011 GALT en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

473323018 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473324012 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473325013 Classical galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728019013 Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Only initial character 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	Is a	Deficiency of transferase (disorder)	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 galactosemia, homozygous Duarte-type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosemia, heterozygous type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some
Classical galactosemia, homozygous Negro-type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)