Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 764456001 |
Code System Concept Name | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) |
Code System Preferred Concept Name | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
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Superseded By Concept | |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 | 07/31/2018 |
SDO Date Created | 07/31/2018 |
SDO Date Revised | 07/31/2018 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3649620013 | CA-VA (carbonic anhydrase VA) deficiency | Active | Synonym | false | false |
3649916011 | Carbonic anhydrase VA deficiency | Active | Synonym | false | false |
3649918012 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Active | Synonym | false | false |
5285682015 | CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Active | Synonym | false | false |
5285683013 | Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital disease (disorder)
{66091009
, SNOMED-CT
}
Disorder of branched-chain amino acid metabolism (disorder)
{116020001
, SNOMED-CT
}
Hereditary disorder of nervous system (disorder)
{363235000
, SNOMED-CT
}
Hyperammonemic encephalopathy (disorder)
{425522009
, 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: