725289009: 5-amino-4-imidazole carboxamide ribosiduria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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)\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\5-amino-4-imidazole carboxamide ribosiduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3440760015	5-amino-4-imidazole carboxamide ribosiduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440761016	5-amino-4-imidazole carboxamide ribosiduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3440763018	ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3780959012	AICA (5-amino-4-imidazole carboxamide) ribosiduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440764012	An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4368891000172119	5-amino-4-imidazolcarboxamideribosidurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4368901000172115	AICA-ribosidurie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4368911000172117	ATIC-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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