782719004: Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (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\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disorder of head\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \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\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia due to STUB1 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755461016	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755463018	Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3755464012	Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755465013	Spinocerebellar ataxia autosomal recessive type 16	en	Synonym	Active	Case insensitive	SNOMED CT core
3755466014	Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3755468010	SCAR16 - spinocerebellar ataxia autosomal recessive type 16	en	Synonym	Active	Case sensitive	SNOMED CT core
3755467017	A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.	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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