Code System Concept

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Code System Concept

Code System Concept Code	398680004
Code System Concept Name	Citrullinemia (disorder)
Code System Preferred Concept Name	Citrullinemia (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Superseded By Concept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	07/31/2003
SDO Date Created	07/31/2003
SDO Date Revised	07/31/2003
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
1773235018	Citrullinaemia	Active	Synonym	false	false
1774521013	Citrullinemia	Active	Synonym	false	false
1786524014	Argininosuccinate synthase deficiency	Active	Synonym	false	false
1786525010	ASS deficiency	Active	Synonym	false	false
1786526011	ASA synthase deficiency	Active	Synonym	false	false
1786527019	Argininosuccinase deficiency	Active	Synonym	false	false
1786528012	ASAS deficiency	Active	Synonym	false	false
1786529016	Arginosuccinate synthetase 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)

Aminoacidemia (disorder) {46556004 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Disorder of the urea cycle metabolism (disorder) {36444000 , SNOMED-CT } Enzymopathy (disorder) {78548001 , SNOMED-CT } Hereditary disease (disorder) {32895009 , SNOMED-CT } Hereditary metabolic disease (disorder) {1821000146108 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Citrullinemia (disorder) {398680004 , SNOMED-CT }

Parent/Child (Relationship Type)

Citrin deficiency (disorder) {429735007 , SNOMED-CT } Citrullinemia type I (disorder) {1149103000 , SNOMED-CT } Citrullinemia, late-onset type (disorder) {12066005 , SNOMED-CT } Citrullinemia, neonatal type (disorder) {30529005 , SNOMED-CT } Citrullinemia, subacute type (disorder) {3140001 , SNOMED-CT }

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