785301002: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disorder of head\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \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\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3766838017	Autosomal recessive spinocerebellar ataxia type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3766839013	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3766840010	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	en	Synonym	Active	Case insensitive	SNOMED CT core
3766841014	SCAR7 - autosomal recessive spinocerebellar ataxia type 7	en	Synonym	Active	Case sensitive	SNOMED CT core
3766842019	A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15.	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

Description inactivation indicator reference set

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