763770005: Familial myoclonus of cerebral cortex (disorder)

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

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
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

Expanded Value Set

This concept is not in any reference sets

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