766814006: syndroom van autosomaal recessieve cerebellaire ataxie met saccadische intrusies (aandoening)

• 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\Finding of eye 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\Finding of eye region\Disorder of eye region (disorder)\Inappropriate saccades\Abnormal saccadic eye movement\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
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
• \Eye / vision finding\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\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
6933001000146114	syndroom van autosomaal recessieve cerebellaire ataxie met saccadische intrusies (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6933011000146111	syndroom van autosomaal recessieve cerebellaire ataxie met saccadische intrusies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6933021000146118	autosomaal recessieve cerebellaire ataxie met 'catch up'-saccades	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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