Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757298019 | Progressive myoclonic epilepsy type 6 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3757300019 | Progressive myoclonic epilepsy type 6 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3757301015 | North Sea progressive myoclonus epilepsy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3757302010 | PME type 6 - progressive myoclonic epilepsy type 6 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3757303017 | Progressive myoclonus epilepsy type 6 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3757306013 | GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3757307016 | GOSR2-related progressive myoclonus ataxia | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3757308014 | A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3757309018 | A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive myoclonic epilepsy type 6 | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
| Progressive myoclonic epilepsy type 6 | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 2 | |
| Progressive myoclonic epilepsy type 6 | Interprets | Movement | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR