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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\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)\affection dégénérative de l'œil\dégénérescence de la rétine\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 (disorder)\Congenital anomaly of macula (disorder)\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)\trouble rétinien (trouble)\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)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\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)\trouble rétinien (trouble)\dégénérescence de la rétine\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)\trouble rétinien (trouble)\dégénérescence de la rétine\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)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\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\constatation à propos d'un globe oculaire\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\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\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\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\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\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\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\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\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\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\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\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)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Degeneration of posterior pole of eye\Degenerative disorder of macula (disorder)\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary macular dystrophy\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble métabolique\Disorder of purine and pyrimidine metabolism\troubles du métabolisme des purines\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \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 (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\5-amino-4-imidazole carboxamide ribosiduria (disorder)
• \Disease\trouble du développement\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

Expanded Value Set

This concept is not in any reference sets

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