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190745006: Galactosemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
293192017 Galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293193010 Galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
574365010 Galactosemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
293192017 Galactosaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
293192017 Galactosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
293193010 Galactosemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
293193010 Galactosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
574365010 Galactosemia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
574365010 Galactosemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444361001000114 Galaktosämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
802131000241112 galactosémie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911791000172119 galactosémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
802131000241112 galactosémie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
911791000172119 galactosémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444361001000114 Galaktosämie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Galactosaemia Is a Disorder of galactose metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Galactosaemia Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a False Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
Uridine diphosphate glucose-4-epimerase deficiency (disorder) Is a True Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
Other specified galactosemia Is a False Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
Galactosemia NOS Is a False Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
Galactosemia screening Has focus True Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept) 2
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a False Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
galactosémie avec ictère fœtale Due to False Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept) 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Is a True Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
Family history of galactosemia Associated finding True Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept) 1
Deficiency of galactose mutarotase Is a True Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner. Is a True Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept)
Early neonatal jaundice due to galactosemia Due to True Galactosaemia Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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