717785002: syndrome de colobome maculaire-brachydactylie type B (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\défaut rétinien\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (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)\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Coloboma of retina (disorder)\Fundus coloboma\Congenital coloboma of macula lutea\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\brachydactylie\Brachydactyly syndrome type B (disorder)\Coloboma of macula with brachydactyly type B syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1006071000172116	syndrome de Sorsby	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3323594014	Coloboma of macula with brachydactyly type B syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323595010	Coloboma of macula with brachydactyly type B syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3323596011	Sorsby syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
751511000241112	syndrome de colobome maculaire-brachydactylie type B (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
878471000172115	syndrome de colobome maculaire-brachydactylie type B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3323597019	A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner.	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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