1187215002: Tubulinopathy-associated dysgyria (disorder)

• SNOMED CT Concept\constatation clinique\...
• \lésion neurologique\lésion cérébrale\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\lésion cérébrale\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (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 anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Tubulinopathy-associated dysgyria (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 anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\lésion cérébrale\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \Finding of head region\Disorder of basal ganglia (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \Disease\Genetic disease\Tubulinopathy-associated dysgyria (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 anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (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 anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (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)\Tubulinopathy-associated dysgyria (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 anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (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\Tubulinopathy-associated dysgyria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Tubulinopathy-associated dysgyria (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Tubulinopathy-associated dysgyria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4672746015	Tubulinopathy-associated dysgyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672747012	Brain stem asymmetry, superior cerebellar and basal ganglia dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672748019	Tubulinopathy-associated dysgyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672755017	A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures and behavioral problems.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672756016	A rare genetic central nervous system malformation characterised by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures and behavioural problems.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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