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 |
| 766881000241116 | encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 969001000172110 | encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 998941000172119 | déficit en CA-VA | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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) | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | est un(e) (attribut) | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | est un(e) (attribut) | Hyperammonemic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 | |
| Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | localisation d'une constatation (attribut) | structure du tissu encéphalique | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR