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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662707011	Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404665011	A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404666012	A rare hereditary ataxia characterised by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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