Code System Concept

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Code System Concept

Code System Concept Code	1149103000
Code System Concept Name	Citrullinemia type I (disorder)
Code System Preferred Concept Name	Citrullinemia type I (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Superseded By Concept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	09/01/2022
SDO Date Created	07/31/2021
SDO Date Revised	07/31/2021
Description	A rare autosomal recessive urea cycle defect characterised biologically by hyperammonaemia and clinically by progressive lethargy, poor feeding and vomiting. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the ASS1 gene on chromosome 9q34.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4553945018	Citrullinaemia type 1	Active	Synonym	false	false
4553947014	Citrullinemia type I	Active	Synonym	false	false
4553948016	Citrullinemia type 1	Active	Synonym	false	false
4553949012	Citrullinaemia type I	Active	Synonym	false	false
4553950012	Classic citrullinemia	Active	Synonym	false	false
4553951011	Classic citrullinaemia	Active	Synonym	false	false
5287013019	ASS1-gene related citrullinemia type I	Active	Synonym	false	false
5287014013	Argininosuccinate synthase 1-gene related citrullinemia type I	Active	Synonym	false	false
5287015014	ASS1-gene related citrullinaemia type I	Active	Synonym	false	false
5287016010	Argininosuccinate synthase 1-gene related citrullinaemia type I	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Citrullinemia (disorder) {398680004 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Citrullinemia type I (disorder) {1149103000 , SNOMED-CT } Parent/Child (Relationship Type) Late-onset citrullinemia type I (disorder) {1264112006 , SNOMED-CT }

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