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

5762991000172118 épilepsie myoclonique - fibres rouges déchiquetées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4327501000172116 myoklonische epilepsie met 'ragged-red fibers' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4327511000172118 MERRF nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoclonic epilepsy with ragged red fibers	Is a	épilepsie généralisée cryptogénique	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Mitochondrial cytopathy (disorder)	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Finding site	Cerebrum	true	Inferred relationship	Some	3
Myoclonic epilepsy with ragged red fibers	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	2
Myoclonic epilepsy with ragged red fibers	Occurrence	Congenital	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
Myoclonic epilepsy with ragged red fibers	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Mitochondrial encephalomyopathy (disorder)	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	crise épileptique myoclonique	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Interprets	Movement	true	Inferred relationship	Some	4
Myoclonic epilepsy with ragged red fibers	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Generalized epilepsy	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Movement disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epileptic seizures - myoclonic	Is a	False	Myoclonic epilepsy with ragged red fibers	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
5762991000172118	épilepsie myoclonique - fibres rouges déchiquetées	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4327501000172116	myoklonische epilepsie met 'ragged-red fibers'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4327511000172118	MERRF	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)