Code System Concept

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Code System Concept

Code System Concept Code	30287008
Code System Concept Name	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)
Code System Preferred Concept Name	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (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Superseded By Concept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
1216334015	HHH - Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	Active	Synonym	false	false
1217833013	HHH - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Active	Synonym	false	false
484534018	Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	Active	Synonym	false	false
50692013	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Active	Synonym	false	false
5286802011	SLC25A15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome	Active	Synonym	false	false
5286803018	Solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome	Active	Synonym	false	false
5286804012	SLC25A15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome	Active	Synonym	false	false
5286805013	Solute carrier family 25 member 15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome	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 } Disorder of ornithine metabolism (disorder) {237928008 , SNOMED-CT } Disorder of the central nervous system (disorder) {23853001 , SNOMED-CT } Hyperammonemia (disorder) {9360008 , SNOMED-CT } Hyperornithinemia (disorder) {33985005 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , 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,