764456001: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Toxic encephalopathy (disorder)\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Toxic encephalopathy (disorder)\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Toxic metabolic encephalopathy\Toxic encephalopathy (disorder)\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Toxic encephalopathy (disorder)\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Toxic encephalopathy (disorder)\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Toxic metabolic encephalopathy\Toxic encephalopathy (disorder)\Hyperammonemic encephalopathy (disorder)\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
• \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 branched-chain amino acid metabolism\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649620013	CA-VA (carbonic anhydrase VA) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3649916011	Carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649917019	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649918012	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5285682015	CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5285683013	Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404300013	A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404301012	A rare, hereditary inborn error of metabolism characterised by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycaemia, increased serum lactate and alanine.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3649620013	CA-VA (carbonic anhydrase VA) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3649916011	Carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649917019	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649918012	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5285682015	CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5285683013	Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649919016	Inherited disorder characterised by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonaemia, metabolic acidosis, respiratory alkalosis, hypoglycaemia and reduced production of bicarbonate in the liver. Caused by mutations in the CA5A gene resulting in absent or impaired carbonic anhydrase VA enzyme function leading to reduced bicarbonate production. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3649920010	Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic acidosis, respiratory alkalosis, hypoglycemia and reduced production of bicarbonate in the liver. Caused by mutations in the CA5A gene resulting in absent or impaired carbonic anhydrase VA enzyme function leading to reduced bicarbonate production. Inherited in an autosomal recessive pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404300013	A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404301012	A rare, hereditary inborn error of metabolism characterised by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycaemia, increased serum lactate and alanine.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426001001000118	Hyperammonämische Enzephalopathie durch Carboanhydrase VA-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
969001000172110	encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998941000172119	déficit en CA-VA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
969001000172110	encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998941000172119	déficit en CA-VA	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3426001001000118	Hyperammonämische Enzephalopathie durch Carboanhydrase VA-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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