721873007: Joubert syndrome with orofaciodigital defect (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Joubert syndrome with orofaciodigital defect (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\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\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\...
• \Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Joubert syndrome with orofaciodigital defect (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Genetic disease\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\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\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\absence du vermis\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\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\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital brain aplasia (disorder)\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Anencephalus\Congenital absence of part of brain\Aplasia of cerebellum\Aplasia of the vermis\Familial aplasia of the vermis\Joubert syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\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\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Oral-facial-digital syndrome (disorder)\Joubert syndrome with orofaciodigital defect (disorder)

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
3326396016	Joubert syndrome with orofaciodigital defect (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326397013	Joubert syndrome with orofaciodigital defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326398015	Joubert syndrome with oro-facial-digital syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326399011	Orofaciodigital syndrome type 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326400016	Varadi Papp syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326401017	Varadi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326402012	A very rare subtype of Joubert syndrome and related disorders with characteristics of neurological features of Joubert syndrome associated with orofacial anomalies and often polydactyly. Prevalence is unknown. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenula, but cleft lip and/or palate can also be present. Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients and the genetic basis of this condition still remains elusive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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