1172636006: Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of left eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of right eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of left eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of right eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of left eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of right eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of left eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of right eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of left eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of right eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of left eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of right eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of left eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of right eye\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Chronic disease\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4634910013 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4634911012 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome en Synonym Active Case insensitive SNOMED CT core

4634912017 A rare genetic retinal disorder with characteristics of bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling and mild hypermetropic astigmatism may be associated. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	Chronic disease	true	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	Disorder of right eye	true	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	Disorder of left eye	true	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	Congenital coloboma of iris	true	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Clinical course	Progressive	true	Inferred relationship	Some	4
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Finding site	Structure of iris of right eye	true	Inferred relationship	Some	1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Finding site	Structure of iris of left eye	true	Inferred relationship	Some	2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	3
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4634910013	Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4634911012	Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4634912017	A rare genetic retinal disorder with characteristics of bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling and mild hypermetropic astigmatism may be associated.	en	Definition	Active	Case sensitive	SNOMED CT core