722282008: Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Finding of head and neck region\Head 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia 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\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331424015 Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331425019 Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome en Synonym Active Case insensitive SNOMED CT core

3331426018 Graham Cox syndrome en Synonym Active Case sensitive SNOMED CT core

3331428017 A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Iris structure	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Bone structure of mandible	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Entire corpus callosum	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Agenesis	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Agenesis of corpus callosum	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Coloboma of iris	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Congenital micrognathism	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Iris structure	false	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Entire corpus callosum	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Bone structure of mandible	false	Inferred relationship	Some	6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Congenital coloboma of iris	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Finding site	Iris structure	false	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331424015	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331425019	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331426018	Graham Cox syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331428017	A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene.	en	Definition	Active	Case sensitive	SNOMED CT core