Code System Concept

Code System Concept

Code System Concept Code	230426003
Code System Concept Name	Myoclonic epilepsy with ragged red fibers (disorder)
Code System Preferred Concept Name	Myoclonic epilepsy with ragged red fibers (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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	A mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
345295014	MERRF - Myoclonic epilepsy - ragged red fibres	Active	Synonym	false	false
345296010	Myoclonic epilepsy - ragged red fibres	Active	Synonym	false	false
345297018	MERRF - Myoclonic epilepsy - ragged red fibers	Active	Synonym	false	false
345298011	Myoclonic epilepsy - ragged red fibers	Active	Synonym	false	false
3702986016	Myoclonic epilepsy with ragged red fibers	Active	Synonym	false	false
3702988015	Myoclonic epilepsy with ragged red fibres	Active	Synonym	false	false
3702989011	MERFF - myoclonic epilepsy with ragged red fibres	Active	Synonym	false	false
3702990019	MERFF - myoclonic epilepsy with ragged red fibers	Active	Synonym	false	false
3702991015	Fukuhara syndrome	Active	Synonym	false	false

Associated Value Sets

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Other Relationships

No other relationships present.

Child Concepts

Myoclonic epilepsy with ragged red fibers (disorder) {230426003 , SNOMED-CT }

Parent/Child (Relationship Type)

Epileptic seizures - myoclonic (disorder) {192992007 , SNOMED-CT }