Code System Concept

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Code System Concept

Code System Concept Code	765329008
Code System Concept Name	Carbamoyl-phosphate synthetase 1 deficiency (disorder)
Code System Preferred Concept Name	Carbamoyl-phosphate synthetase 1 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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare and severe disorder of urea cycle metabolism most commonly characterised by either a neonatal-onset of severe hyperammonaemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonaemia. The disease is due to mutations in the CPS1 gene (2p) that encodes carbamoyl-phosphate synthetase I (CPS1), an enzyme located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa that controls the first step of the urea cycle where ammonia is converted into carbamoyl-phosphate. Mutations in this gene lead to an interruption in the urea cycle and excess nitrogen is not converted to urea for excretion by the kidneys, leading to hyperammonemia. 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
3657932010	Carbamoyl-phosphate synthetase I deficiency	Active	Synonym	false	false
3657934011	Carbamoyl-phosphate synthetase 1 deficiency	Active	Synonym	false	false
3657935012	CPS1 (carbamoyl-phosphate synthetase 1 ) deficiency	Active	Synonym	false	false
3780968014	CPS1 (carbamoyl-phosphate synthetase 1) deficiency	Active	Synonym	false	false
5286195017	CPS1-gene related carbamoyl-phosphate synthetase 1 deficiency	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of the urea cycle metabolism (disorder) {36444000 , SNOMED-CT } Inborn error of amino acid metabolism (disorder) {42930003 , 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,