Code System Concept

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Code System Concept

Code System Concept Code	124302001
Code System Concept Name	Deficiency of galactokinase (disorder)
Code System Preferred Concept Name	Deficiency of galactokinase (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
204013015	Deficiency of galactokinase	Active	Synonym	false	false
473224014	Galactokinase deficiency galactosemia	Active	Synonym	false	false
473225010	Galactosemia II	Active	Synonym	false	false
473226011	Galactosaemia - galactokinase deficiency	Active	Synonym	false	false
473227019	GALK	Active	Synonym	false	false
473228012	Galactokinase deficiency	Active	Synonym	false	false
473229016	GALK - Galactokinase deficiency	Active	Synonym	false	false
473230014	Galactosemia - galactokinase deficiency	Active	Synonym	false	false
473231013	Galactokinase deficiency galactosaemia	Active	Synonym	false	false
473232018	Galactosaemia II	Active	Synonym	false	false
5244209013	GALK (galactokinase) deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Deficiency of transferase (disorder) {124237001 , SNOMED-CT } Galactosemia (disorder) {190745006 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,