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

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

204118014 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym Active Entire term case insensitive SNOMED CT core module

204119018 Deficiency of galactose-1-phosphate uridyl transferase en Synonym Active Entire term case insensitive SNOMED CT core module

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

473318018 Classical galactosemia en Synonym Active Entire term case insensitive SNOMED CT core module

473319014 Galactose-1-phosphate uridyltransferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

473320015 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

473321016 Galactose-1-phosphate uridyl transferase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

473322011 GALT en Synonym Active Entire term case sensitive SNOMED CT core module

473323018 Transferase deficiency galactosaemia en Synonym Active Entire term case insensitive SNOMED CT core module

473324012 Transferase deficiency galactosemia en Synonym Active Entire term case insensitive SNOMED CT core module

473325013 Classical galactosaemia en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	Deficiency of transferase	false	Inferred relationship	Existential restriction modifier
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Is a	Galactosemia	false	Inferred relationship	Existential restriction modifier
Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

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	Existential restriction modifier
Classical galactosemia, heterozygous type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Existential restriction modifier
Classical galactosemia, homozygous Negro-type	Is a	False	Deficiency of UTP-hexose-1-phosphate uridylyltransferase	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets