1187215002: Tubulinopathy-associated dysgyria (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Lesion of brain\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Lesion of brain\Tubulinopathy-associated dysgyria
• \Cerebellar disorder\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disorder of basal ganglia\Tubulinopathy-associated dysgyria
• \Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Finding of head region\Disorder of basal ganglia\Tubulinopathy-associated dysgyria
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disorder of head\Encephalopathy\Lesion of brain\Tubulinopathy-associated dysgyria
• \Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disorder of head\Encephalopathy\Disorder of basal ganglia\Tubulinopathy-associated dysgyria
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Genetic disease\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of head\Encephalopathy\Lesion of brain\Tubulinopathy-associated dysgyria
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Tubulinopathy-associated dysgyria
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Tubulinopathy-associated dysgyria
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Tubulinopathy-associated dysgyria

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
4672747012	Brain stem asymmetry, superior cerebellar and basal ganglia dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4672748019	Tubulinopathy-associated dysgyria	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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