Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638646019 | Progressive myoclonus epilepsy with dystonia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638647011 | Progressive myoclonic epilepsy with dystonia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638648018 | Progressive myoclonic epilepsy with dystonia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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 | Cerebrum | true | Inferred relationship | Some | 2 | |
| Progressive myoclonic epilepsy with dystonia | Is a | Myoclonic dystonia (disorder) | false | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy with dystonia | Interprets | Movement | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR