1237475006: Cerebellar-facial-dental syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \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 (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \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 tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of tooth development (disorder)\Malformation of tooth\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Cerebellar-facial-dental syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099392013	Cerebellar-facial-dental syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099393015	Cerebellofaciodental syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099394014	Cerebellar-facial-dental syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400289016	A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400290013	A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterised mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099392013	Cerebellar-facial-dental syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099393015	Cerebellofaciodental syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099394014	Cerebellar-facial-dental syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099410019	A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies. The disorder is due to biallelic variants in the BRF1 (14q32.33) gene; the pathogenic variants reported are missense variants, with only one frameshift mutation identified. All variants affect protein residues located within the cyclin 2 protein domain.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400289016	A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400290013	A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterised mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.	en	Definition	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