720601000: syndroom van camptodactylie, grote gestalte, scoliose en gehoorverlies (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Deformity of limb (finding)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Flexion deformity of hand\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of digit of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321502013	CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321504014	Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321505010	Camptodactyly and tall stature with scoliosis and hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6974121000146118	syndroom van camptodactylie, grote gestalte, scoliose en gehoorverlies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6974141000146112	syndroom van camptodactylie, grote gestalte, scoliose en gehoorverlies (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016371000146111	CATSHL-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3321503015	This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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