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

SNOMED CT Concept\Clinical finding (finding)\...

\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

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome

\Finding of head region\Disorder of eye region (disorder)\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Inappropriate saccades\Abnormal saccadic eye movement\Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
\Disorder of head (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

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

4126341000052110 syndrom med autosomalt recessiv cerebellär ataxi och sackadisk intrusion sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Finding site	Eye region structure (body structure)	true	Inferred relationship	Some	2
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Is a	Abnormal saccadic eye movement	true	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
4126341000052110	syndrom med autosomalt recessiv cerebellär ataxi och sackadisk intrusion	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)