733418003: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disorder of head\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

\Disease\Genetic disease\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\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 rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

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

Descriptions:

Id Description Lang Type Status Case? Module

3499398014 Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy) en Synonym Active Case sensitive SNOMED CT core

3499399018 Joubert syndrome with Jeune asphyxiating thoracic dystrophy en Synonym Active Case sensitive SNOMED CT core

3499400013 Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3499989018 An extremely rare genetic bone disorder with characteristics of the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia, cognitive impairment, and abnormal eye movements), associated with the skeletal anomalies found in Jeune asphyxiating thoracic dystrophy including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs and metaphyseal changes. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	Aplasia	true	Inferred relationship	Some	2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	3
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Finding site	Bone structure of rib	true	Inferred relationship	Some	3
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Finding site	Entire limb	true	Inferred relationship	Some	1
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Is a	Jeune thoracic dystrophy	true	Inferred relationship	Some
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Is a	Joubert syndrome	true	Inferred relationship	Some
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	4
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	5
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	Aplasia	false	Inferred relationship	Some	6
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	6
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	6
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	4
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Finding site	Entire limb	false	Inferred relationship	Some	4
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Finding site	Bone structure of rib	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499398014	Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)	en	Synonym	Active	Case sensitive	SNOMED CT core
3499399018	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3499400013	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3499989018	An extremely rare genetic bone disorder with characteristics of the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia, cognitive impairment, and abnormal eye movements), associated with the skeletal anomalies found in Jeune asphyxiating thoracic dystrophy including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs and metaphyseal changes.	en	Definition	Active	Case sensitive	SNOMED CT core