770788000: syndroom van grote gestalte, scoliose en macrodactylie van grote teen (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Hypertrophy of lower limb\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\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\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\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\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital macrodactyly (disorder)\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of toe\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital overgrowth of lower limb\Congenital overgrowth of partial lower limb\Congenital overgrowth of foot\Macrodactyly of toe (disorder)\Tall stature, scoliosis, macrodactyly of great toe syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3702797011 Tall stature, scoliosis, macrodactyly of great toe syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702798018 Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3702799014 Tall stature, scoliosis, macrodactyly of hallux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7002421000146119 syndroom van grote gestalte, scoliose en macrodactylie van grote teen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7002431000146117 syndroom van grote gestalte, scoliose en macrodactylie van grote teen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7084841000146117 syndroom van grote gestalte, scoliose en macrodactylie van hallux nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3702800013 A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	Perodactylia of great toe	true	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	Macrodactyly of toe (disorder)	true	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Tall stature, scoliosis, macrodactyly of great toe syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Tall stature, scoliosis, macrodactyly of great toe syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Tall stature, scoliosis, macrodactyly of great toe syndrome	Finding site	Great toe structure (body structure)	true	Inferred relationship	Some	2
Tall stature, scoliosis, macrodactyly of great toe syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tall stature, scoliosis, macrodactyly of great toe syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Tall stature, scoliosis, macrodactyly of great toe syndrome	Associated morphology	Hypertrophy (morphologic abnormality)	true	Inferred relationship	Some	2
Tall stature, scoliosis, macrodactyly of great toe syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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