230426003: Myoclonic epilepsy with ragged red fibers (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)

\Finding of movement\Movement disorder\Myoclonic epilepsy with ragged red fibers (disorder)

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibers (disorder)

\Chronic disease of musculoskeletal system\Myoclonic epilepsy with ragged red fibers (disorder)

\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)

\Disease\Genetic disease\Hereditary disease\Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Metabolic disease\Chronic metabolic disorder\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Movement disorder\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Chronic disease\Chronic metabolic disorder\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Myoclonic epilepsy with ragged red fibers (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Mitochondrial myopathy (disorder)\Mitochondrial encephalomyopathy (disorder)\Myoclonic epilepsy with ragged red fibers (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	épilepsie généralisée cryptogénique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Congenital anomaly of skeletal muscle (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Mitochondrial cytopathy (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Myoclonic epilepsy with ragged red fibers (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Myoclonic epilepsy with ragged red fibers (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Chronic brain syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Mitochondrial encephalomyopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Myoclonic seizure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Generalized epilepsy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder)	Is a	Movement disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epileptic seizures - myoclonic	Is a	False	Myoclonic epilepsy with ragged red fibers (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
3702991015	Fukuhara syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5425019012	MERRF - myoclonic epilepsy with ragged red fibres	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5425020018	MERRF - myoclonic epilepsy with ragged red fibers	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
345295014	MERRF - Myoclonic epilepsy - ragged red fibres	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
345296010	Myoclonic epilepsy - ragged red fibres	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
345296010	Myoclonic epilepsy - ragged red fibres	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
345297018	MERRF - Myoclonic epilepsy - ragged red fibers	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
345297018	MERRF - Myoclonic epilepsy - ragged red fibers	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
345298011	Myoclonic epilepsy - ragged red fibers	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
345298011	Myoclonic epilepsy - ragged red fibers	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618231015	Myoclonic epilepsy - ragged red fibers (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
618231015	Myoclonic epilepsy - ragged red fibers (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
5425019012	MERRF - myoclonic epilepsy with ragged red fibres	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5425020018	MERRF - myoclonic epilepsy with ragged red fibers	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
3444341001000110	MERRF	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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
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
3444341001000110	MERRF	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module