Code System Concept

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Code System Concept

Code System Concept Code	8849004
Code System Concept Name	Uridine diphosphate glucose-4-epimerase deficiency (disorder)
Code System Preferred Concept Name	Uridine diphosphate glucose-4-epimerase deficiency (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Superseded By Concept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
1217060017	Galactosaemia - epimerase deficiency	Active	Synonym	false	false
1218548013	Galactosemia - epimerase deficiency	Active	Synonym	false	false
1235351010	Epimerase deficiency	Active	Synonym	false	false
1235352015	Uridine diphosphate galactose-4-epimerase deficiency	Active	Synonym	false	false
15606019	UDPglucose-4-epimerase deficiency	Active	Synonym	false	false
15607011	Galactose epimerase deficiency	Active	Synonym	false	false
15608018	UDPgalactose-4-epimerase deficiency	Active	Synonym	false	false
15609014	Uridine diphosphate galactose-4 epimerase deficiency	Active	Synonym	false	false
15610016	GALE	Active	Synonym	false	false
15611017	Galactosemia III	Active	Synonym	false	false
2621311018	Uridine diphosphate (UDP) glucose-4-epimerase deficiency	Active	Synonym	false	false
2914071016	Uridine diphosphate glucose-4-epimerase deficiency	Active	Synonym	false	false
508057016	Galactosaemia III	Active	Synonym	false	false
5244092019	GALE (UDP-galactose-4-epimerase) deficiency	Active	Synonym	false	false
5244093012	UDP (uridine diphosphate) galactose-4-epimerase deficiency	Active	Synonym	false	false
5244094018	UDP (uridine diphosphate) glucose-4-epimerase deficiency	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

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Galactosemia (disorder) {190745006 , SNOMED-CT } Specific enzyme deficiency (disorder) {129456006 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Uridine diphosphate glucose-4-epimerase deficiency (disorder) {8849004 , SNOMED-CT } Parent/Child (Relationship Type) Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder) {297238008 , SNOMED-CT } Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder) {297237003 , SNOMED-CT }

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