765089003: Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)

\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)
\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Focal epilepsy\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
\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)

\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 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)\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 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)\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\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
\Disease\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\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\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

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

12178411000172117 syndrome d'épilepsie focale, déficience intellectuelle et malformation cérébro-cérébelleuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12178421000172110 syndrome d'épilepsie focale, déficience intellectuelle et dysarthrie-ataxie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5268981000172110 syndroom van focale epilepsie, verstandelijke handicap en cerebrocerebellaire malformatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5268991000172113 syndroom van focale epilepsie, mentale retardatie, dysartrie en ataxie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5269001000172113 syndroom van focale epilepsie, mentale retardatie en cerebrocerebellaire malformatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5269011000172111 syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Focal onset epileptic seizure	false	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Dysgenesis of the cerebellum	true	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	Focal epilepsy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
12178411000172117	syndrome d'épilepsie focale, déficience intellectuelle et malformation cérébro-cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12178421000172110	syndrome d'épilepsie focale, déficience intellectuelle et dysarthrie-ataxie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5268981000172110	syndroom van focale epilepsie, verstandelijke handicap en cerebrocerebellaire malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5268991000172113	syndroom van focale epilepsie, mentale retardatie, dysartrie en ataxie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5269001000172113	syndroom van focale epilepsie, mentale retardatie en cerebrocerebellaire malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5269011000172111	syndroom van focale epilepsie, verstandelijke beperking en cerebrocerebellaire malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)