Code System Concept

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Code System Concept

Code System Concept Code	190745006
Code System Concept Name	Galactosemia (disorder)
Code System Preferred Concept Name	Galactosemia (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Superseded By Concept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
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
293192017	Galactosaemia	Active	Synonym	false	false
293193010	Galactosemia	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Disorder of galactose metabolism (disorder) {237963003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Galactosemia (disorder) {190745006 , SNOMED-CT }

Parent/Child (Relationship Type)

Deficiency of galactokinase (disorder) {124302001 , SNOMED-CT } Deficiency of galactose mutarotase (disorder) {1187616008 , SNOMED-CT } Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) {124354006 , SNOMED-CT } Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) {398664009 , SNOMED-CT } Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) {124353000 , SNOMED-CT } Galactosemia NOS (disorder) {190747003 , SNOMED-CT } Other specified galactosemia (disorder) {190746007 , SNOMED-CT } Uridine diphosphate glucose-4-epimerase deficiency (disorder) {8849004 , SNOMED-CT }

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