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 |
| 3757254019 | Progressive myoclonic epilepsy type 5 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757256017 | Progressive myoclonus epilepsy type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757257014 | Progressive myoclonic epilepsy type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5244198018 | PME (progressive myoclonic epilepsy) type 5 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757258016 | A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3757259012 | A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. | 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 5 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 5 (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 5 (disorder) | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 5 (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 5 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Progressive myoclonic epilepsy type 5 (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 2 | |
| Progressive myoclonic epilepsy type 5 (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