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

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Toxic encephalopathy\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Toxic encephalopathy\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Toxic metabolic encephalopathy\Toxic encephalopathy\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Toxic encephalopathy\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Toxic metabolic encephalopathy\Toxic encephalopathy\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Disorder of head\Encephalopathy\Toxic metabolic encephalopathy\Toxic encephalopathy\Hyperammonemic encephalopathy\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
• \Disease\Congenital disease\Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Status: current, Primitive. 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	Active	Case sensitive	SNOMED CT core
3649916011	Carbonic anhydrase VA deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649917019	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3649918012	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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