733418003: syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une structure du tronc\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\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une structure du tronc\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une structure du tronc\affection du tronc\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\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une structure du tronc\affection du tronc\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\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\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 (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Genetic disease\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (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 (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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 (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection du tronc\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\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection du tronc\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection du tronc\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\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\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 (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\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\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Developmental hereditary disorder\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Developmental hereditary disorder\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\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 (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\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\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\dystrophie thoracique asphyxiante\Joubert syndrome with Jeune asphyxiating thoracic dystrophy

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
1015111000172115	JBTS avec JATD	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
763041000241110	syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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