FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.0  |  FHIR Version n/a  User: [n/a]

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

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

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a Deficiency of transferase true 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
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Causative agent UTP-hexose-1-phosphate uridylyltransferase true Inferred relationship Some 1
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a Drug-related disorder false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Classical galactosaemia, homozygous Duarte-type Is a True Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Some
Classical galactosaemia, heterozygous type Is a True Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Some
Classical galactosaemia, homozygous Negro-type Is a True Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start