124302001: Deficiency of galactokinase (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\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.
• \Metabolic disease\Disorder of carbohydrate metabolism\Disorder of galactose metabolism\Galactosaemia\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.

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
5444748014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5444749018	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	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
4771901000241111	déficit en galactokinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410021001000117	Galaktokinase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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