778021002: Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Optic disc finding\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Central nervous system finding\Optic disc finding\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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 detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Optic disc finding\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Optic disc finding\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Retinal drusen\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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 detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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 detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome

\Eye / vision finding\Globe finding\Retina finding\Optic disc finding\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Optic disc finding\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal drusen\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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 detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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 detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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 detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen 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 detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737210015 Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome en Synonym Active Case insensitive SNOMED CT core

3737212011 Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3747112019 Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome en Synonym Active Case insensitive SNOMED CT core

3737218010 A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. en Definition Active Case sensitive SNOMED CT core

3737219019 A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	4
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Associated morphology	Hyaline body	true	Inferred relationship	Some	1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Disorder of macula of retina	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	4
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Microphthalmos	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Finding site	Entire eye	true	Inferred relationship	Some	2
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Associated morphology	Separation	true	Inferred relationship	Some	3
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Finding site	Structure of fovea centralis	true	Inferred relationship	Some	3
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Retinal detachment	false	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Drusen of optic disc	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Finding site	Optic disc structure	true	Inferred relationship	Some	1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Optic disc disorder	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Congenital retinoschisis	false	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	Retinoschisis	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737210015	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3737212011	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3747112019	Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3737218010	A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.	en	Definition	Active	Case sensitive	SNOMED CT core
3737219019	A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.	en	Definition	Active	Case sensitive	SNOMED CT core