230426003: Myoclonic epilepsy with ragged red fibers (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers
\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibers
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers
\Finding of brain\Disorder of brain\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibers

\Disorder of head\Disorder of brain\...

\Mitochondrial encephalomyopathy\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 skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\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\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\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\Hereditary disorder of nervous system\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of body system\Disorder of nervous system\Chronic nervous system disorder\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\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\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Myoclonic epilepsy with ragged red fibers
\Disease\Disorder of head\Disorder of brain\Chronic brain syndrome\Myoclonic epilepsy with ragged red fibers
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\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\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\Myoclonic epilepsy with ragged red fibers

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

Descriptions:

Id Description Lang Type Status Case? Module

3702986016 Myoclonic epilepsy with ragged red fibers en Synonym Active Entire term case insensitive SNOMED CT core module

3702987013 Myoclonic epilepsy with ragged red fibers (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3702988015 Myoclonic epilepsy with ragged red fibres en Synonym Active Entire term case insensitive SNOMED CT core module

3702989011 MERFF - myoclonic epilepsy with ragged red fibres en Synonym Active Entire term case sensitive SNOMED CT core module

3702990019 MERFF - myoclonic epilepsy with ragged red fibers en Synonym Active Entire term case sensitive SNOMED CT core module

3702991015 Fukuhara syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myoclonic epilepsy with ragged red fibers	Is a	Cryptogenic generalized epilepsy	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Mitochondrial cytopathy	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	3
Myoclonic epilepsy with ragged red fibers	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Myoclonic epilepsy with ragged red fibers	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	1
Myoclonic epilepsy with ragged red fibers	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Chronic brain syndrome	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Mitochondrial encephalomyopathy	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Myoclonic seizure	false	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	4
Myoclonic epilepsy with ragged red fibers	Is a	Maternally inherited mitochondrial deoxyribonucleic acid disease	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Generalized epilepsy	true	Inferred relationship	Existential restriction modifier
Myoclonic epilepsy with ragged red fibers	Is a	Movement disorder	true	Inferred relationship	Existential restriction modifier

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

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	Active	Entire term case insensitive	SNOMED CT core module
3702987013	Myoclonic epilepsy with ragged red fibers (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3702988015	Myoclonic epilepsy with ragged red fibres	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3702989011	MERFF - myoclonic epilepsy with ragged red fibres	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3702990019	MERFF - myoclonic epilepsy with ragged red fibers	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3702991015	Fukuhara syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module