Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 784372002 |
Code System Concept Name | Familial mesial temporal lobe epilepsy with febrile seizures (disorder) |
Code System Preferred Concept Name | Familial mesial temporal lobe epilepsy with febrile seizures (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
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Superseded By Concept | |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 familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalised seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3763837015 | Familial mesial temporal lobe epilepsy with febrile seizures | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Familial disease (disorder)
{111941005
, SNOMED-CT
}
Familial febrile convulsions (disorder)
{230432008
, SNOMED-CT
}
Febrile convulsion (finding)
{41497008
, SNOMED-CT
}
Febrile disorder (disorder)
{416113008
, SNOMED-CT
}
Hereditary disorder of nervous system (disorder)
{363235000
, SNOMED-CT
}
Temporal lobe epilepsy (disorder)
{193000002
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: