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 |
| 3649619019 | AMRF - action myoclonus renal failure | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3649892013 | Progressive myoclonic epilepsy type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649894014 | Myoclonus nephropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649900014 | Action myoclonus renal failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649901013 | Action myoclonus renal failure syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5072053016 | Syndrome with characteristics of episodes of myoclonus. Renal disease is an inconsistent feature occurring in some but not all cases. Myoclonic jerks typically occur in the torso, upper and lower limbs and face. Some affected individuals develop seizures, peripheral neuropathy or sensorineural hearing loss. Where renal problems occur, an early sign is proteinuria. Age of onset and the clinical course may vary even among members of the same family. The syndrome is caused by mutations in the SCARB2 gene leading to production of an altered LIMP-2 protein that cannot get to the lysosome. As a result, the movement of beta-glucocerebrosidase to lysosomes is impaired. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4157011000052113 | syndrom med intentionsmyoklonus och njursvikt | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Action myoclonus renal failure syndrome | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Action myoclonus renal failure syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Action myoclonus renal failure syndrome | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Action myoclonus renal failure syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Action myoclonus renal failure syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Action myoclonus renal failure syndrome | Finding site | Cerebrum | false | Inferred relationship | Some | 1 | |
| Action myoclonus renal failure syndrome | Interprets | Movement | false | Inferred relationship | Some | 2 | |
| Action myoclonus renal failure syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Glomerular disease due to action myoclonus renal failure syndrome | Due to | True | Action myoclonus renal failure syndrome | Inferred relationship | Some | 2 |
This concept is not in any reference sets
FHIR