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190745006: Galactosemia (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
293192017 Galactosaemia en Synonym Active Case insensitive SNOMED CT core
293193010 Galactosemia en Synonym Active Case insensitive SNOMED CT core
574365010 Galactosemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Galactosaemia Is a Galactose metabolism disorder true Inferred relationship Some
Galactosaemia Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of galactose mutarotase Is a True Galactosaemia Inferred relationship Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a False Galactosaemia Inferred relationship Some
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a False Galactosaemia Inferred relationship Some
Perinatal jaundice due to galactosaemia Due to True Galactosaemia Inferred relationship Some 1
UDPglucose-4-epimerase deficiency Is a True Galactosaemia Inferred relationship Some
Other specified galactosaemia Is a False Galactosaemia Inferred relationship Some
Galactosaemia NOS Is a False Galactosaemia Inferred relationship Some
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Is a True Galactosaemia Inferred relationship Some
Family history of galactosaemia Associated finding True Galactosaemia Inferred relationship Some 1
Galactosaemia screening Has focus True Galactosaemia Inferred relationship Some 2

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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