774155009: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Ear canal finding\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Ear canal finding\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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 ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies 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\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Ear finding\External ear finding\Ear canal finding\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3728167013 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome en Synonym Active Case insensitive SNOMED CT core

3728168015 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3728169011 SAMS syndrome en Synonym Active Case sensitive SNOMED CT core

3728170012 SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome en Synonym Active Case sensitive SNOMED CT core

3728171011 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Finding site	Bone structure of mandible	true	Inferred relationship	Some	3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Congenital micrognathism	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Finding site	External auditory canal structure	true	Inferred relationship	Some	2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Congenital atresia of external auditory canal	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	Congenital atresia	true	Inferred relationship	Some	2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3728167013	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3728168015	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3728169011	SAMS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3728170012	SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3728171011	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32.	en	Definition	Active	Case sensitive	SNOMED CT core