763770005: Familial myoclonus of cerebral cortex (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Head finding (finding)\Finding of head region\Disorder of cerebral cortex (disorder)\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Finding of movement\Movement disorder\Myoclonic disorder\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Myoclonic disorder\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Familial disease\Familial myoclonus of cerebral cortex (disorder)
• \Disease\Movement disorder\Myoclonic disorder\Cerebral cortex myoclonus (disorder)\Familial myoclonus of cerebral cortex (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643773010	Familial cortical myoclonus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643777011	Familial myoclonus of cerebral cortex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643778018	Familial myoclonus of cerebral cortex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404191011	Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404192016	Familial cortical myoclonus is a rare, genetic movement disorder characterised by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643773010	Familial cortical myoclonus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643777011	Familial myoclonus of cerebral cortex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643778018	Familial myoclonus of cerebral cortex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643776019	A rare genetic movement disorder with characteristics of autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. The disease is caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404191011	Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404192016	Familial cortical myoclonus is a rare, genetic movement disorder characterised by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437071001000110	Kortikaler Myoklonus, familiärer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6188321000241119	myoclonie corticale familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6188331000241117	myoclonie familiale du cortex cérébral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6188321000241119	myoclonie corticale familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6188331000241117	myoclonie familiale du cortex cérébral	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437071001000110	Kortikaler Myoklonus, familiärer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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