770604006: X-linked cerebral, cerebellar, coloboma syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Finding of head region\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Finding of head region\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\leuco-encéphalopathie\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Hemianencephaly\aplasie du corps calleux\agénésie du corps calleux (trouble)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\X-linked cerebral, cerebellar, coloboma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701526013	X-linked cerebral, cerebellar, coloboma syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701527016	X-linked intellectual disability Kroes type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701528014	X-linked cerebral, cerebellar, coloboma syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701258016	A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	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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