230426003: Myoclonic epilepsy with ragged red fibers (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Myoclonic epilepsy with ragged red fibres
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Finding of brain\Encephalopathy\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Disorder of head\Encephalopathy\...
• \Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibres
• \Chronic disease of musculoskeletal system\Myoclonic epilepsy with ragged red fibres
• \Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease\Myoclonic epilepsy with ragged red fibres
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Myoclonic epilepsy with ragged red fibres
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres
• \Disease\Metabolic disease\Chronic metabolic disorder\Myoclonic epilepsy with ragged red fibres
• \Disease\Movement disorder\Myoclonic epilepsy with ragged red fibres
• \Disease\Chronic disease\Chronic metabolic disorder\Myoclonic epilepsy with ragged red fibres
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibres
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Myoclonic epilepsy with ragged red fibres
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibres

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702986016	Myoclonic epilepsy with ragged red fibers	en	Synonym	Active	Case insensitive	SNOMED CT core
3702987013	Myoclonic epilepsy with ragged red fibers (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702988015	Myoclonic epilepsy with ragged red fibres	en	Synonym	Active	Case insensitive	SNOMED CT core
3702989011	MERFF - myoclonic epilepsy with ragged red fibres	en	Synonym	Active	Case sensitive	SNOMED CT core
3702990019	MERFF - myoclonic epilepsy with ragged red fibers	en	Synonym	Active	Case sensitive	SNOMED CT core
3702991015	Fukuhara syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3702992010	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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