784344009: Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder)

• SNOMED CT Concept\constatation clinique\...
• \lésion neurologique\lésion cérébrale\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\lésion cérébrale\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\lésion cérébrale\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Finding of head region\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\trouble du développement\Developmental hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763701017	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763702012	Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763703019	Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763704013	A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763705014	A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganisation and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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