Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5063469013 | Progressive myoclonic epilepsy type 9 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5063470014 | Progressive myoclonic epilepsy type 9 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5063471013 | Progressive myoclonic epilepsy due to LMNB2 deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5063472018 | Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5063473011 | Progressive myoclonus epilepsy type 9 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5063474017 | PME type 9 - progressive myoclonic epilepsy type 9 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5063475016 | A rare genetic neurological disorder with characteristics of childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts and simplified gyration (frontally). | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive myoclonic epilepsy type 9 | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 9 | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 9 | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 9 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 9 | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
| Progressive myoclonic epilepsy type 9 | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Progressive myoclonic epilepsy type 9 | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 2 | |
| Progressive myoclonic epilepsy type 9 | Is a | Movement disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Australian dialect reference set
Problem/Diagnosis reference set
FHIR