773548008: Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Head finding (finding)\Finding of head region\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
• \Head finding (finding)\Finding of head region\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disorder of visual pathways\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\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
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\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
• \Disease\Disorder of head (disorder)\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
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental and epileptic encephalopathy (disorder)\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3724043012	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724044018	Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724045017	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724043012	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724044018	Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724045017	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
544971000274112	Epilepsie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391351001000112	Frühinfantile epileptische Enzephalopathie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892511000172119	syndrome d'encéphalopathie épileptique infantile précoce-cécité corticale-déficience intellectuelle-dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1010051000172111	syndrome d'épilepsie, cécité corticale, déficience intellectuelle, dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
892511000172119	syndrome d'encéphalopathie épileptique infantile précoce-cécité corticale-déficience intellectuelle-dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1010051000172111	syndrome d'épilepsie, cécité corticale, déficience intellectuelle, dysmorphie faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
544971000274112	Epilepsie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391351001000112	Frühinfantile epileptische Enzephalopathie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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