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 |
| 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR