726709001: Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Intellectual disability, cataract, calcified pinna, myopathy 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)\affection dégénérative de l'œil\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Pinna finding\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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 anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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 anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\External ear finding\Pinna finding\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\External ear finding\Pinna finding\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\External ear finding\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\External ear finding\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\External ear finding\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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)\affection dégénérative de l'œil\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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)\affection dégénérative de l'œil\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \affection d'un muscle squelettique\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection dégénérative\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative de l'œil\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection dégénérative\Calcinosis\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy 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)\affection dégénérative de l'œil\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Intellectual disability, cataract, calcified pinna, myopathy syndrome (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\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy 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 anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Ear lesion\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Lesion of external ear (disorder)\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Disorder of external ear (disorder)\Disorder of pinna\Lesion of pinna (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (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
3451971012	Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451972017	Intellectual disability, cataract, calcified pinna, myopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451973010	Primrose syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451974016	A rare genetic intellectual disability syndrome with characteristics of macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair and tall stature. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include hypothyroidism, cerebral calcification, ataxia and peripheral neuropathy. There is evidence this disease is caused by heterozygous mutation in the ZBTB20 gene on chromosome 3q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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