719949001: Trigonocephaly with broad thumb syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Trigonocephaly with broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Trigonocephaly with broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Trigonocephaly with broad thumb syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Trigonocephaly with broad thumb syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Broad thumbs\Trigonocephaly with broad thumb syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Trigonocephaly with broad thumb 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 nose\Trigonocephaly with broad thumb 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\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Finding of head region\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Trigonocephaly with broad thumb 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\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Trigonocephaly with broad thumb 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\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Trigonocephaly with broad thumb syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trigonocephaly with broad thumb syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Trigonocephaly with broad thumb syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital abnormality of skull shape\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb 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 skull\Congenital anomaly of frontal bone\Congenital abnormal shape of frontal bone\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Trigonocephaly\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Trigonocephaly with broad thumb syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Trigonocephaly with broad thumb syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3314976016 Trigonocephaly with broad thumb syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318436014 Trigonocephaly with broad thumb syndrome en Synonym Active Case insensitive SNOMED CT core

3318556013 Hunter Rudd Hoffmann syndrome en Synonym Active Case sensitive SNOMED CT core

3318557016 This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trigonocephaly with broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Trigonocephaly with broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Trigonocephaly with broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Trigonocephaly with broad thumb syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Trigonocephaly with broad thumb syndrome	Finding site	Digit structure	true	Inferred relationship	Some	3
Trigonocephaly with broad thumb syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Trigonocephaly with broad thumb syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Trigonocephaly with broad thumb syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	4
Trigonocephaly with broad thumb syndrome	Finding site	Frontal bone structure	true	Inferred relationship	Some	4
Trigonocephaly with broad thumb syndrome	Finding site	Nasal structure	true	Inferred relationship	Some	1
Trigonocephaly with broad thumb syndrome	Finding site	Structure of frontal suture of skull	true	Inferred relationship	Some	2
Trigonocephaly with broad thumb syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Trigonocephaly with broad thumb syndrome	Associated morphology	Abnormal shape	true	Inferred relationship	Some	4
Trigonocephaly with broad thumb syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Trigonocephaly	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Disorder of hand	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Congenital anomaly of nose	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Broad thumbs	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Some
Trigonocephaly with broad thumb syndrome	Finding site	Thumb structure	true	Inferred relationship	Some	6
Trigonocephaly with broad thumb syndrome	Interprets	Form of thumb	false	Inferred relationship	Some	5
Trigonocephaly with broad thumb syndrome	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	6
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Trigonocephaly with broad thumb syndrome	Finding site	Frontal bone structure	false	Inferred relationship	Some	6
Trigonocephaly with broad thumb syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Trigonocephaly with broad thumb syndrome	Finding site	Nasal structure	false	Inferred relationship	Some	7
Trigonocephaly with broad thumb syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	8
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Trigonocephaly with broad thumb syndrome	Finding site	Digit structure	false	Inferred relationship	Some	8
Trigonocephaly with broad thumb syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	9
Trigonocephaly with broad thumb syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Trigonocephaly with broad thumb syndrome	Finding site	Structure of frontal suture of skull	false	Inferred relationship	Some	9

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

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Id	Description	Lang	Type	Status	Case?	Module
3314976016	Trigonocephaly with broad thumb syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318436014	Trigonocephaly with broad thumb syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318556013	Hunter Rudd Hoffmann syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318557016	This syndrome has characteristics of neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	en	Definition	Active	Case sensitive	SNOMED CT core