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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Due to | Hyperammonemia | true | Inferred relationship | Some | 2 | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Is a | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Is a | Hyperammonemic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Finding site | Brain tissue structure | false | Inferred relationship | Some | 3 | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Finding site | Brain tissue structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR