766814006: Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Finding of head region\Disorder of eye region\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disorder of head\Disorder of eye region\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Eye / vision finding\Visual system disorder\...
• \Disorder of eye region\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disorder of eye movements\Neurologic disorder of eye movements\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Neurological disorder\Neurologic disorder of eye movements\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of head\Disorder of eye region\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662706019	Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3662707011	Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662708018	A rare hereditary ataxia with characteristics of progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions. It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	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

Back to Start