Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3757802019 | Progressive myoclonic epilepsy type 8 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3757803012 | Progressive myoclonic epilepsy type 8 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3757804018 | PME type 8 - progressive myoclonic epilepsy type 8 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3757805017 | Progressive myoclonus epilepsy type 8 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3757806016 | Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3757807013 | Progressive myoclonic epilepsy due to ceramide synthase 1 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3757808015 | A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3757809011 | A rare genetic neurological disorder characterised by childhood to adolescent-onset of action myoclonus, generalised tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive myoclonic epilepsy type 8 | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 8 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 8 | Is a | Progressive myoclonic epilepsy | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 8 | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive myoclonic epilepsy type 8 | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
| Progressive myoclonic epilepsy type 8 | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 2 | |
| Progressive myoclonic epilepsy type 8 | Interprets | Movement | false | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR