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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \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\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\X-linked cerebral, cerebellar, coloboma syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\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
5404834016	X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by 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, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404835015	X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterised by 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, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5404834016	X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by 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, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404835015	X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterised by 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, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
544141000274115	X-chromosomale Intelligenzminderung, Typ Kroes	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430671001000116	X-chromosomales zerebral-zerebelläres-Kolobom-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
544141000274115	X-chromosomale Intelligenzminderung, Typ Kroes	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430671001000116	X-chromosomales zerebral-zerebelläres-Kolobom-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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