719947004: Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Skull finding (finding)\Disorder of skull (disorder)\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Bone finding\Skull finding (finding)\Disorder of skull (disorder)\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (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\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Intellectual disability\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Developmental hereditary disorder\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\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\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318558014 A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5402275018 A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402276017 A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318554011 Temtamy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318555012 Temtamy Shalash syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318559018 Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318560011 Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Agenesis of corpus callosum	false	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	mental retardering	false	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Congenital ocular coloboma (disorder)	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Occurrence	Congenital	true	Inferred relationship	Some	4
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Occurrence	Congenital	false	Inferred relationship	Some	5
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Occurrence	Congenital	false	Inferred relationship	Some	6
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Occurrence	Congenital	false	Inferred relationship	Some	7
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	dysgenese	false	Inferred relationship	Some	5
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	dysgenese	false	Inferred relationship	Some	6
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Bone structure of cranium	false	Inferred relationship	Some	6
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	kongenit manglende sammenvoksning	false	Inferred relationship	Some	7
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Eye structure	false	Inferred relationship	Some	7
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Bone structure of face	false	Inferred relationship	Some	5
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	Congenital absence	false	Inferred relationship	Some	4
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Entire corpus callosum	false	Inferred relationship	Some	4
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Occurrence	Congenital	true	Inferred relationship	Some	1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Eye structure	false	Inferred relationship	Some	1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Intellectual disability	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Occurrence	Congenital	true	Inferred relationship	Some	2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Occurrence	Congenital	true	Inferred relationship	Some	3
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Eye structure	true	Inferred relationship	Some	3
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Bone structure of face	true	Inferred relationship	Some	2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	3
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Associated morphology	Aplasia	true	Inferred relationship	Some	4
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Partial agenesis of corpus callosum	false	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	Corpus callosum structure	true	Inferred relationship	Some	4
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Aplasia of corpus callosum	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Interprets	Intellectual ability	true	Inferred relationship	Some	5
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Has interpretation	Impaired	true	Inferred relationship	Some	5
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Has interpretation	Impaired	true	Inferred relationship	Some	6

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Id	Description	Lang	Type	Status	Case?	Module
3318558014	A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402275018	A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402276017	A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318554011	Temtamy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318555012	Temtamy Shalash syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318559018	Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318560011	Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core