715748006: Spinocerebellar ataxia type 1 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disorder of head\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spinocerebellar ataxia type 1
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 1
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 1

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303595015	Spinocerebellar ataxia type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303596019	Spinocerebellar ataxia type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3303597011	Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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