717785002: Coloboma of macula with brachydactyly type B syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome

\Eye / vision finding\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Retinal defect\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly syndrome type B\Coloboma of macula with brachydactyly type B syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3323594014 Coloboma of macula with brachydactyly type B syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3323595010 Coloboma of macula with brachydactyly type B syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3323596011 Sorsby syndrome en Synonym Active Case sensitive SNOMED CT core

3323597019 A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coloboma of macula with brachydactyly type B syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Coloboma of macula with brachydactyly type B syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Coloboma of macula with brachydactyly type B syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Coloboma of macula with brachydactyly type B syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome	Finding site	Macula lutea structure	true	Inferred relationship	Some	2
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome	Is a	Congenital anomaly of macula	false	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome	Is a	Coloboma of eye	false	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome	Is a	Brachydactyly syndrome type B	true	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	3
Coloboma of macula with brachydactyly type B syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Coloboma of macula with brachydactyly type B syndrome	Finding site	Entire digit	true	Inferred relationship	Some	3
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	4
Coloboma of macula with brachydactyly type B syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Coloboma of macula with brachydactyly type B syndrome	Finding site	Macula lutea structure	false	Inferred relationship	Some	4
Coloboma of macula with brachydactyly type B syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	5
Coloboma of macula with brachydactyly type B syndrome	Finding site	Entire digit	false	Inferred relationship	Some	5
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Coloboma of macula with brachydactyly type B syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Coloboma of macula with brachydactyly type B syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome	Finding site	Macula lutea structure	false	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome	Is a	Congenital coloboma of macula lutea	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323594014	Coloboma of macula with brachydactyly type B syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3323595010	Coloboma of macula with brachydactyly type B syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3323596011	Sorsby syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323597019	A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner.	en	Definition	Active	Case sensitive	SNOMED CT core