Code System Concept

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Code System Concept

Code System Concept Code	57119000
Code System Concept Name	Hyperammonemia, type III (disorder)
Code System Preferred Concept Name	Hyperammonemia, type III (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Superseded By Concept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
1231687019	N-Acetylglutamate synthase deficiency	Active	Synonym	false	false
1231688012	NAGS - N-Acetylglutamate synthase deficiency	Active	Synonym	false	false
198715011	NAGS deficiency	Active	Synonym	false	false
497797019	Hyperammonaemia, type III	Active	Synonym	false	false
5286196016	NAGS-gene related hyperammonemia type III	Active	Synonym	false	false
5286197013	NAGS-gene related hyperammonaemia type III	Active	Synonym	false	false
94990017	Hyperammonemia, type III	Active	Synonym	false	false
94991018	N-acetylglutamate synthetase deficiency	Active	Synonym	false	false
94992013	Amino acid acetyltransferase deficiency	Active	Synonym	false	false
94993015	N-acetylglutamate transferase deficiency	Active	Synonym	false	false
94994014	AGA deficiency	Active	Synonym	false	false
94995010	Congenital AGA 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 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT } Hyperammonemia (disorder) {9360008 , SNOMED-CT } Inborn error of metabolism (disorder) {86095007 , 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,