719253007: Spinocerebellar ataxia type 30 (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 30
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \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 30
• \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 30
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disorder of head\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \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 30
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spinocerebellar ataxia type 30
• \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 30
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \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 30
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \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 30
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \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 30
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \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 30
• \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 30
• \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 30
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Spinocerebellar ataxia type 30
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Spinocerebellar ataxia type 30

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3315692018	Spinocerebellar ataxia type 30 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3315693011	Spinocerebellar ataxia type 30	en	Synonym	Active	Case insensitive	SNOMED CT core
3315694017	A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.	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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