721847002: Joubert syndrome with congenital hepatic fibrosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Liver finding\Liver disease\...
• \Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Digestive system finding\Liver finding\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Digestive system finding\Liver finding\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Joubert syndrome with hepatic defect
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \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 hepatic defect
• \Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Joubert syndrome with hepatic defect
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Developmental hereditary disorder\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326243010	Joubert syndrome with congenital hepatic fibrosis (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3326244016	Joubert syndrome with hepatic defect	en	Synonym	Active	Case sensitive	SNOMED CT core
3326245015	Joubert syndrome with congenital hepatic fibrosis	en	Synonym	Active	Case sensitive	SNOMED CT core
3326246019	Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3326247011	COACH syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326248018	Gentile syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326250014	COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326249014	A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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