Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638646019 | Progressive myoclonus epilepsy with dystonia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3638647011 | Progressive myoclonic epilepsy with dystonia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3638648018 | Progressive myoclonic epilepsy with dystonia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3638649014 | A rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3638650014 | A rare genetic epilepsy syndrome characterised by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localised and/or generalised paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive myoclonic epilepsy with dystonia | Is a | Myoclonic dystonia | false | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy with dystonia | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Progressive myoclonic epilepsy with dystonia | Is a | Dystonia | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy with dystonia | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy with dystonia | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy with dystonia | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy with dystonia | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 1 | |
| Progressive myoclonic epilepsy with dystonia | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR