Code System Concept

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Code System Concept

Code System Concept Code	726702005
Code System Concept Name	Epileptic encephalopathy with global cerebral demyelination (disorder)
Code System Preferred Concept Name	Epileptic encephalopathy with global cerebral demyelination (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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3451872018	Epileptic encephalopathy with global cerebral demyelination	Active	Synonym	false	false
3451873011	Mitochondrial aspartate-glutamate carrier 1 deficiency	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Anomalies of cerebrum (disorder) {204039001 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital and developmental anomalies of the nervous system (disorder) {230764002 , SNOMED-CT } Congenital anomaly of cerebrum (disorder) {702628006 , SNOMED-CT } Developmental and epileptic encephalopathy (disorder) {1275631007 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Epileptic encephalopathy (disorder) {723125008 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Mitochondrial cytopathy (disorder) {240096000 , 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,