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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\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 (disorder)\Congenital anomaly of central nervous system (disorder)\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)\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)\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)\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 (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of foetus and/or newborn\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\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of head (disorder)\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)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Developmental disorder (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 (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638625011	Poretti Boltshauser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638626012	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404014016	A rare neuro-ophthalmological disease characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404015015	A rare neuro-ophthalmological disease characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638624010	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638625011	Poretti Boltshauser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638626012	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404014016	A rare neuro-ophthalmological disease characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404015015	A rare neuro-ophthalmological disease characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
542441000274118	Poretti-Boltshauser-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382641001000113	Ataxie-Intelligenzminderung-okulomotorische Apraxie-zerebelläre Zysten-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5750391000241117	syndrome d'ataxie cérébelleuse, retard mental, apraxie oculomotrice et kystes cérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5750411000241117	syndrome d'ataxie cérébelleuse, déficience intellectuelle, apraxie oculomotrice et kystes cérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5750391000241117	syndrome d'ataxie cérébelleuse, retard mental, apraxie oculomotrice et kystes cérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5750411000241117	syndrome d'ataxie cérébelleuse, déficience intellectuelle, apraxie oculomotrice et kystes cérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
542441000274118	Poretti-Boltshauser-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382641001000113	Ataxie-Intelligenzminderung-okulomotorische Apraxie-zerebelläre Zysten-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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