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

Status: current, 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
1766583010 Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
1778188017 Deficiency of UTP-hexose-1-phosphate uridylyltransferase en Synonym Active Only initial character case insensitive SNOMED CT core module
1783653010 Transferase deficiency galactosaemia en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1783654016 Classical galactosaemia en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1784041019 Transferase deficiency galactosemia en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1784042014 Classical galactosemia en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1786510010 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1786511014 Galactose-1-phosphate uridyl transferase deficiency en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1786512019 GALT deficiency en Synonym Inactive Entire term case sensitive SNOMED CT core module
1786513012 Galactose-1-phosphate uridyltransferase deficiency en Synonym Inactive Only initial character case insensitive SNOMED CT core module
1786514018 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
1786515017 Deficiency of galactose-1-phosphate uridyl transferase en Synonym Inactive Only initial character case insensitive SNOMED CT core module
2914538014 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase en Synonym Active Entire term case insensitive SNOMED CT core module
2914763012 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Is a Deficiency of transferase true Inferred relationship Existential restriction modifier
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Is a Galactosemia false Inferred relationship Existential restriction modifier
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Finding site Body system structure false Inferred relationship Existential restriction modifier
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Causative agent Uridine triphosphate-hexose-1-phosphate uridylyltransferase true Inferred relationship Existential restriction modifier 1
Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Is a Drug-related disorder false Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Classical galactosemia, homozygous Duarte-type Is a True Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier
Classical galactosemia, heterozygous type Is a True Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier
Classical galactosemia, homozygous Negro-type Is a True Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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