726709001: syndroom van verstandelijke beperking, cataract, verkalkte oorschelp en myopathie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye 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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye 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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \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)
• \Head finding (finding)\Finding of head region\Ear finding\External ear finding\Pinna finding\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\External ear finding\Pinna finding\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\External ear finding\Pinna finding\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\External ear finding\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye 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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye 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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Muscle finding\Disorder of muscle\...
• \Congenital myopathy (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Hereditary myopathy (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Degenerative disorder\Calcinosis\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of muscle\Congenital myopathy (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\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 (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Degenerative disorder of ear (disorder)\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of external ear\Disorder of pinna (disorder)\Lesion of pinna\Pinnal calcification\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of lens (disorder)\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
6742321000146116	syndroom van Primrose	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6941991000146119	syndroom van mentale retardatie, cataract, verkalkte oorschelp en myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495961000146115	syndroom van verstandelijke beperking, cataract, verkalkte oorschelp en myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7718561000146110	syndroom van verstandelijke beperking, cataract, verkalkte oorschelp en myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7796491000146118	syndroom van verstandelijke handicap, cataract, verkalkte oorschelp en myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

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