Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 783139000 |
Code System Concept Name | Progressive myoclonic epilepsy type 8 (disorder) |
Code System Preferred Concept Name | Progressive myoclonic epilepsy type 8 (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 07/31/2019 |
SDO Date Created | 07/31/2019 |
SDO Date Revised | 07/31/2019 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3757803012 | Progressive myoclonic epilepsy type 8 | Active | Synonym | false | false |
3757804018 | PME type 8 - progressive myoclonic epilepsy type 8 | Active | Synonym | false | false |
3757805017 | Progressive myoclonus epilepsy type 8 | Active | Synonym | false | false |
3757806016 | Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency | Active | Synonym | false | false |
3757807013 | Progressive myoclonic epilepsy due to ceramide synthase 1 deficiency | Active | Synonym | false | false |
5244201011 | PME (progressive myoclonic epilepsy) type 8 | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
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Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: