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

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\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
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Strabismus\Oculomotor apraxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\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\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\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
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

Expanded Value Set

This concept is not in any reference sets

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