Code System Concept

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Code System Concept

Code System Concept Code	1231282002
Code System Concept Name	Benign familial neonatal-infantile seizures (disorder)
Code System Preferred Concept Name	Benign familial neonatal-infantile seizures (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

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Superseded By Concept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	09/01/2022
SDO Date Created	06/30/2022
SDO Date Revised	06/30/2022
Description	Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5072040019	BFNIS - benign familial neonatal-infantile seizures	Active	Synonym	false	false
5072041015	Benign neonatal-infantile epilepsy	Active	Synonym	false	false
5072044011	Benign familial neonatal-infantile seizures	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Epilepsy (disorder) {84757009 , SNOMED-CT } Focal onset epileptic seizure (finding) {29753000 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , 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:
- Centers for Disease Control and Prevention,