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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\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)
• \Head finding (finding)\Finding of brain\Disorder of brain\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)
• \Head finding (finding)\Finding of brain\Disorder of brain\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)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Musculoskeletal finding related to thorax\Finding of bone of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Musculoskeletal finding related to thorax\Finding of bone of thorax\Finding of rib structure\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Musculoskeletal finding related to thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\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)
• \Central nervous system finding\Finding of brain\Disorder of brain\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)
• \Central nervous system finding\Finding of brain\Disorder of brain\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)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\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)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Finding of bone of thorax\Finding of rib structure\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Musculoskeletal finding related to thorax\Finding of bone of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Musculoskeletal finding related to thorax\Finding of bone of thorax\Finding of rib structure\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Musculoskeletal finding related to thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Genetic disease\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\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)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\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)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\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)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of head (disorder)\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)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Disorder of head (disorder)\Disorder of brain\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)
• \Disease\Disorder of head (disorder)\Disorder of brain\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)
• \Disease\Disorder of head (disorder)\Disorder of brain\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)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\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)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\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)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Developmental disorder (disorder)\Congenital malformation\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)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\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)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia (disorder)\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Jeune thoracic dystrophy (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499399018	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499400013	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403773019	A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403774013	A rare genetic developmental defect during embryogenesis characterised by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499398014	Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499399018	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499400013	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403773019	A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403774013	A rare genetic developmental defect during embryogenesis characterised by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447451001000114	Joubert-Syndrom mit Jeune asphyxierender Thoraxdystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
964311000172111	syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015111000172115	JBTS avec JATD	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
964311000172111	syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015111000172115	JBTS avec JATD	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447451001000114	Joubert-Syndrom mit Jeune asphyxierender Thoraxdystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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