773498006: autosomaal recessieve spinocerebellaire ataxie type 23 (aandoening)

SNOMED CT Concept\klinische bevinding (bevinding)\...

\bevinding betreffende coördinatie en/of coördinatiestoornis (bevinding)\Ataxia\...

\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\Central nervous system finding\Finding of brain\aanval (bevinding)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\...

\Finding of brain\aanval (bevinding)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Finding of brain\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\...

\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\neurologische bevinding (bevinding)\bevinding gerelateerd aan epileptische aanval\aanval (bevinding)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\Mental disorder\Chronic mental disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\chronische ziekte (aandoening)\Chronic mental disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\chronische ziekte (aandoening)\Chronic nervous system disorder\Chronic brain syndrome\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ontwikkelingsstoornis\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
\Disease\ontwikkelingsstoornis\Developmental hereditary disorder\Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: module van internationale editie (metadata)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3723732015	Spinocerebellar ataxia autosomal recessive type 23	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3723733013	SCAR23 - spinocerebellar ataxia autosomal recessive type 23	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3723736017	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	en	volledig gespecificeerde naam (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3723738016	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency	en	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
6718761000146116	SCAR-23	nl	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
6803121000146115	autosomaal recessieve spinocerebellaire ataxie type 23	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
7825801000146112	autosomaal recessieve spinocerebellaire ataxie type 23 (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
3723737014	A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.	en	tekstdefinitie (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3723739012	A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.	en	tekstdefinitie (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Amerikaans-Engelse taalreferentieset (metadata): voorkeursterm

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	locatie van bevinding	Cerebellar structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Chronic brain syndrome	true	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Chronic mental disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Hereditary ataxia (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Intellectual disability	true	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	gegeneraliseerde epilepsie	true	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Cerebellar ataxia	true	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Hereditary disorder of nervous system	false	geïnfereerde relatie	existentiële restrictie (metadata)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Clinical course	Progressive	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	locatie van bevinding	Cerebrum	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	Developmental hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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