30287008: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperornithinemia\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Disorder of ornithine metabolism\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Hyperornithinemia\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Hyperammonemia\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperornithinemia\Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
50692013	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484534018	Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
761274013	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216334015	HHH - Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217833013	HHH - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5286802011	SLC25A15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5286803018	Solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5286804012	SLC25A15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5286805013	Solute carrier family 25 member 15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
50692013	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
50692013	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484534018	Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484534018	Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
761274013	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
761274013	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216334015	HHH - Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216334015	HHH - Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217833013	HHH - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217833013	HHH - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5286802011	SLC25A15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5286803018	Solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5286804012	SLC25A15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5286805013	Solute carrier family 25 member 15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3396011001000119	Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
877751000172116	déficit en ORNT1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
956391000172116	syndrome d'hyperornithinémie-hyperammoniémie-homocitrullinurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
877751000172116	déficit en ORNT1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
956391000172116	syndrome d'hyperornithinémie-hyperammoniémie-homocitrullinurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396011001000119	Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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