124302001: Deficiency of galactokinase (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of galactokinase (disorder)
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of galactokinase (disorder)
• \Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\Deficiency of galactokinase (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
204013015	Deficiency of galactokinase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473224014	Galactokinase deficiency galactosemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473225010	Galactosemia II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
473226011	Galactosaemia - galactokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473228012	Galactokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473230014	Galactosemia - galactokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473231013	Galactokinase deficiency galactosaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
473232018	Galactosaemia II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
727904012	Deficiency of galactokinase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244209013	GALK (galactokinase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244210015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244211016	A rare mild form of galactosaemia characterised by early onset of cataract and an absence of the usual signs of classic galactosaemia, 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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