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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\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
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Finding of head region\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\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
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\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
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Neurological lesion\Lesion of brain (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\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
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\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
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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 brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\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
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\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\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\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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 brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\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\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\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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 brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\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\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\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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 brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\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\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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 brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\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\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\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\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\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\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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 brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \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\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\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\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Cortical dysplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\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
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
3409221001000118	Kortikale Dysgenese mit pontozerebellärer Hypoplasie durch TUBB3-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5876661000241115	dysgénésie corticale avec hypoplasie pontocérébelleuse due à une mutation de la tubuline bêta 3 de classe III	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5876671000241111	dysgénésie corticale avec hypoplasie pontocérébelleuse due à une mutation TUBB3 (tubuline bêta 3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5876661000241115	dysgénésie corticale avec hypoplasie pontocérébelleuse due à une mutation de la tubuline bêta 3 de classe III	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5876671000241111	dysgénésie corticale avec hypoplasie pontocérébelleuse due à une mutation TUBB3 (tubuline bêta 3)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3409221001000118	Kortikale Dysgenese mit pontozerebellärer Hypoplasie durch TUBB3-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start