721847002: Joubert syndrome with congenital hepatic fibrosis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\...
• \Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Liver finding\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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 (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disease of liver\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Absence of the vermis\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\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 (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\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 (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis (disorder)\Familial aplasia of the vermis\A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5402712010	Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402713017	Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterised by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326243010	Joubert syndrome with congenital hepatic fibrosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326244016	Joubert syndrome with hepatic defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326245015	Joubert syndrome with congenital hepatic fibrosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326246019	Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326247011	COACH syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326248018	Gentile syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326250014	COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Back to Start