765089003: syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656366018	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656367010	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656368017	Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6803511000146115	syndroom van focale epilepsie, mentale retardatie en cerebrocerebellaire malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6940661000146111	syndroom van focale epilepsie, mentale retardatie, dysartrie en ataxie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495551000146112	syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7718081000146110	syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7858581000146112	syndroom van focale epilepsie, verstandelijke handicap en cerebrocerebellaire malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3656177019	A rare genetic neurological disorder with early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura. When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.	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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