Code System Concept

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Code System Concept

Code System Concept Code	778002005
Code System Concept Name	Sodium voltage-gated channel alpha subunit 2 encephalopathy (disorder)
Code System Preferred Concept Name	Sodium voltage-gated channel alpha subunit 2 encephalopathy (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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	Encephalopathy caused by SCN2A mutation. SCN2A encodes the major subunit of voltage-gated sodium channels in excitatory neurons. Mutation may be associated with hereditary disease including autosomal dominant epilepsy syndrome and benign familial neonatal infantile seizures. De novo SCN2A mutations have been accepted to cause severe disorders including epileptic encephalopathies, intellectual disability without epilepsy, Ohtahara and West syndrome, epilepsy of infancy with migrating focal seizures (EIMFS).
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3732606015	SCN2A encephalopathy	Active	Synonym	false	false
3736366011	Sodium voltage-gated channel alpha subunit 2 encephalopathy	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Disorder of brain (disorder) {81308009 , 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,