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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\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\Encephalopathy\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\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\...
• \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\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disorder of head\Encephalopathy\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\Intellectual ability - finding\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\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\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\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\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638624010	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638625011	Poretti Boltshauser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3638626012	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638627015	A rare neuro-ophthalmological disease with characteristics of nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Caused by homozygous or compound heterozygous mutation in the LAMA1 gene on chromosome 18p11.	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

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