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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Pinna finding\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head 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
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head 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
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Pinna finding\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\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
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\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
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Finding of head and neck region\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
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\External ear finding\Pinna finding\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Degenerative disorder\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Degenerative disorder\Calcinosis\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\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
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\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
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of ear\Degenerative disorder of ear\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Disorder of pinna\Lesion of pinna\Calcification of pinna\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Intellectual disability, cataract, calcified pinna, myopathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Intellectual disability, cataract, calcified pinna, myopathy syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3451972017 Intellectual disability, cataract, calcified pinna, myopathy syndrome en Synonym Active Case insensitive SNOMED CT core

3451973010 Primrose syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Congenital abnormality of external ear	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Pinna structure	true	Inferred relationship	Some	3
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	3
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	2
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	2
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Calcification of pinna	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Associated morphology	Pathologic calcification	false	Inferred relationship	Some	5
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Pinna structure	false	Inferred relationship	Some	5
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	4
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	7
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	6
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	6
Intellectual disability, cataract, calcified pinna, myopathy syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3451971012	Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3451972017	Intellectual disability, cataract, calcified pinna, myopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3451973010	Primrose syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core