Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5013643014 | Progressive myoclonus epilepsy type 7 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5013644015 | Progressive myoclonic epilepsy due to KV3.1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5013645019 | Progressive myoclonic epilepsy type 7 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5013646018 | EPM7 - epilepsy progressive myoclonic 7 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5013647010 | Progressive myoclonic epilepsy type 7 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13606321000146113 | progressieve myoklonische epilepsie type 7 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13606331000146110 | progressieve myoklonische epilepsie type 7 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5013648017 | A rare genetic neurological disorder with characteristics of childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures and occasionally ataxia. Learning disability prior to seizure onset and mild cognitive decline may be 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 7 | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 7 | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 7 | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 7 | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 7 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Progressive myoclonic epilepsy type 7 | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Progressive myoclonic epilepsy type 7 | Finding site | Cerebrum | false | Inferred relationship | Some | 2 | |
| Progressive myoclonic epilepsy type 7 | Is a | Movement disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 7 | Finding site | Brain structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR