719139003: syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions (trouble)

SNOMED CT Concept\constatation clinique\...

\lésion neurologique\lésion cérébrale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)

\constatation à propos du système nerveux central\constatation à propos l'encéphale\lésion cérébrale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\lésion cérébrale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Finding of head region\Disorder of basal ganglia (disorder)\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)

\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\hydrocéphalie\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Cystic malformation of posterior fossa (disorder)\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\hydrocéphalie congénitale\syndrome de Dandy-Walker\X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (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

3315142018 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3315143011 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3315144017 Pettigrew syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

753571000241117 syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

905011000172111 syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

989281000172110 syndrome de déficience intellectuelle liée à l'X, malformation de Dandy-Walker, anomalies des ganglions de la base, convulsions fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3315145016 A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Cerebellar vermis structure	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Basal ganglion structure (body structure)	true	Inferred relationship	Some	2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Cerebellar vermis structure	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Congenital malrotation (morphologic abnormality)	true	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Fourth ventricle structure	false	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Congenital cavitation (morphologic abnormality)	false	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Cystic dilatation	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Cystic dilatation	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Fourth ventricle structure	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Infratentorial brain structure	true	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	syndrome de Dandy-Walker	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	Disorder of basal ganglia (disorder)	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Basal ganglion structure (body structure)	false	Inferred relationship	Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Aplasia	false	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Cerebellar vermis structure	false	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Cerebellar vermis structure	false	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Lateral aperture of fourth ventricle	false	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Foramen of Magendie	false	Inferred relationship	Some	7
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Congenital dilatation (morphologic abnormality)	false	Inferred relationship	Some	10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	10
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Congenital cavitation (morphologic abnormality)	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Infratentorial brain structure	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Congenital cavitation (morphologic abnormality)	false	Inferred relationship	Some	9
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	Infratentorial brain structure	false	Inferred relationship	Some	9
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	localisation d'une constatation (attribut)	face	false	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315142018	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315143011	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315144017	Pettigrew syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753571000241117	syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
905011000172111	syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
989281000172110	syndrome de déficience intellectuelle liée à l'X, malformation de Dandy-Walker, anomalies des ganglions de la base, convulsions	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315145016	A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core