783060009: Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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, psychomotor delay syndrome
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Late onset cerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disorder of head\Encephalopathy\...
• \Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \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, psychomotor delay syndrome
• \Disease\Late onset cerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, psychomotor delay syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757283016	Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757284010	Autosomal recessive cerebellar ataxia, psychomotor delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3757285011	Autosomal recessive spinocerebellar ataxia type 11	en	Synonym	Active	Case insensitive	SNOMED CT core
3757286012	A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.	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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