230426003: myoklonische epilepsie met 'ragged-red fibers' (aandoening)

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

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

\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

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Myoclonic epilepsy with ragged red fibers

\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\Hereditary myopathy (disorder)\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\Hereditary myopathy (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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoclonic epilepsy with ragged red fibers	Is a	cryptogene gegeneraliseerde epilepsie (aandoening)	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	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	myoklonische aanval	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
Myoclonic epilepsy with ragged red fibers	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some
Myoclonic epilepsy with ragged red fibers	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
myoklonische epileptische aanvallen	Is a	False	Myoclonic epilepsy with ragged red fibers	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
345295014	MERRF - Myoclonic epilepsy - ragged red fibres	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
345296010	Myoclonic epilepsy - ragged red fibres	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
345297018	MERRF - Myoclonic epilepsy - ragged red fibers	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
345298011	Myoclonic epilepsy - ragged red fibers	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
618231015	Myoclonic epilepsy - ragged red fibers (disorder)	en	Fully specified name	Inactive	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
13191000146118	myoclonische epilepsie met ragged-red fibers	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13201000146116	myoclonische epilepsie met ragged-red fibers [MERRF]	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
118861000146118	myoklonische epilepsie met ragged-red fibers	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1850121000146118	MERRF	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1850131000146116	myoklonische epilepsie met 'ragged-red fibers'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1850141000146112	myoklonische epilepsie met 'ragged-red fibers' (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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