Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757300019 | Progressive myoclonic epilepsy type 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757301015 | North Sea progressive myoclonus epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757303017 | Progressive myoclonus epilepsy type 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757306013 | GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757307016 | GOSR2-related progressive myoclonus ataxia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5244199014 | PME (progressive myoclonic epilepsy) type 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive myoclonic epilepsy type 6 (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 (disorder) | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 6 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Progressive myoclonic epilepsy type 6 (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 2 | |
| Progressive myoclonic epilepsy type 6 (disorder) | Interprets | Movement | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR