15552004: Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation.\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \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)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \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 anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \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)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \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 anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Body measurement finding\Finding of head circumference\Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation.\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, perinatal lethal\Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
26374019	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
742396013	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
273001000077113	ostéogénèse imparfaite létale périnatale récessive avec microcéphalie et cataractes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
638981000274110	Syndrom mit Osteogenesis imperfecta, Mikrozephalie UND Katarakten	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445551001000115	Osteogenesis imperfecta - Mikrozephalie - Katarakte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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