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 | 778001003 |
Code System Concept Name | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) |
Code System Preferred Concept Name | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (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Superseded By Concept | |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 | 01/31/2019 |
SDO Date Created | 01/31/2019 |
SDO Date Revised | 01/31/2019 |
Description | A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3736360017 | KCNQ2-related neonatal epileptic encephalopathy | Active | Synonym | false | false |
3736361018 | KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy | Active | Synonym | false | false |
3736362013 | KCNQ2-related epileptic encephalopathy | Active | Synonym | false | false |
3736363015 | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
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: