773548008: syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie (aandoening)

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

\Central nervous system finding\Finding of brain\aanval (bevinding)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

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

\Finding of brain\aanval (bevinding)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\bevinding betreffende regio van hoofd (bevinding)\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\aandoening van hoofd (aandoening)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\aandoening van hoofd (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\Eye / vision finding\aandoening van visueel systeem (aandoening)\...

\Hereditary disorder of the visual system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\aandoening van gezichtsvermogen\Visual disturbance\Blindness AND/OR vision impairment level\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\Disorder of visual pathways (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\neurologische bevinding (bevinding)\bevinding gerelateerd aan epileptische aanval\aanval (bevinding)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of the visual system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Developmental hereditary disorder\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of the visual system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van visueel systeem (aandoening)\Hereditary disorder of the visual system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van visueel systeem (aandoening)\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van visueel systeem (aandoening)\aandoening van gezichtsvermogen\Visual disturbance\Blindness AND/OR vision impairment level\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van visueel systeem (aandoening)\Disorder of visual pathways (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\congenitale neuropathie\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (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\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\aandoening van hoofd (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\aandoening met aanvallen\Epilepsy\gegeneraliseerde epilepsie\Epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\corticale blindheid\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Congenital disease\congenitale neuropathie\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ontwikkelingsstoornis\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ontwikkelingsstoornis\Developmental hereditary disorder\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (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
3724043012	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3724044018	Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3724045017	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
6761621000146111	syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, mentale retardatie en faciale dysmorfie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
7495591000146117	syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie (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
7587821000146115	syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke handicap en faciale dysmorfie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
7587831000146118	syndroom van vroeg optredende epileptische encefalopathie, corticale blindheid, verstandelijke beperking en faciale dysmorfie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
3724046016	A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.	en	tekstdefinitie (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Hereditary disorder of the visual system	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	locatie van bevinding	structuur van aangezicht	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	locatie van bevinding	structuur van visuele cortex (lichaamsstructuur)	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	corticale blindheid	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Intellectual disability	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Epileptic encephalopathy (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	locatie van bevinding	structuur van visueel baansysteem (lichaamsstructuur)	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Disorder of visual pathways (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Developmental hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	congenitale neuropathie	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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