763344007: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

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

\Finding of brain\Disorder of brain\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Disorder of eye movements\Strabismus\Oculomotor apraxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Oculomotor apraxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of head\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3638624010 Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3638625011 Poretti Boltshauser syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3638626012 Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Oculomotor apraxia	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Dysgenesis of the cerebellum	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Finding site	Structure of visual system	true	Inferred relationship	Existential restriction modifier	1
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3638624010	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3638625011	Poretti Boltshauser syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3638626012	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module