230426003: Myoclonic epilepsy with ragged red fibers (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702987013	Myoclonic epilepsy with ragged red fibers (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702988015	Myoclonic epilepsy with ragged red fibres	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702989011	MERFF - myoclonic epilepsy with ragged red fibres	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702990019	MERFF - myoclonic epilepsy with ragged red fibers	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702991015	Fukuhara syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4959181000241112	épilepsie myoclonique - fibres rouges déchiquetées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start