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

• SNOMED CT Concept\Clinical finding (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 (disorder)\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)\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)\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)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (finding)\Optic disc finding\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (finding)\Optic disc finding\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal drusen\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Retina finding (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 (finding)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (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
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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 proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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 proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Optic disc finding\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Optic disc finding\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal drusen\Drusen of optic disc\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Retina finding (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 (finding)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (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
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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 proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\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\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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 sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\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 (disorder)\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\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of body system\Disorder of nervous system (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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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\Disorder of nervous system (disorder)\Disorder of the central nervous 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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (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\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Lesion of retina\Retinal detachment\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Optic disc disorder\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinoschisis\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Congenital disease (disorder)\Congenital malformation\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 malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737212011	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3747112019	Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
1005451000172111	syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1012331000172117	syndrome de nanophtalmie, rétinite pigmentaire, fovéoschisis, drusen de la papille optique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
883321000172112	nanoftalmie, retinitis pigmentosa, foveoschisis, drusen van optische papil-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
908421000172117	microftalmie, retinitis pigmentosa, foveoschisis, drusen van optische papil-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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