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

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

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

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	SNOMED CT core module
3440761016	5-amino-4-imidazole carboxamide ribosiduria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3440763018	ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3780959012	AICA (5-amino-4-imidazole carboxamide) ribosiduria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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