1208727002: Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4970642016 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4970643014 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome en Synonym Active Case insensitive SNOMED CT core

4970644015 A rare genetic neurological disorder with characteristics of congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing arched thick and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. Caused by homozygous mutation in the FRMD4A gene on chromosome 10p13. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Severe intellectual disability	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Agenesis of corpus callosum	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Finding site	Structure of head	true	Inferred relationship	Some	1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Finding site	Entire corpus callosum	true	Inferred relationship	Some	4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Associated morphology	Agenesis	true	Inferred relationship	Some	4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	7
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4970642016	Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4970643014	Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4970644015	A rare genetic neurological disorder with characteristics of congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing arched thick and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. Caused by homozygous mutation in the FRMD4A gene on chromosome 10p13.	en	Definition	Active	Case sensitive	SNOMED CT core