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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\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\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\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 of visual pathways\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Finding of brain\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Finding of head region\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disorder of head\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\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\Visual disturbance\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\Impaired cognition\Intellectual disability\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 body system\Hereditary disorder by system\Hereditary disorder of the visual system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\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\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\Visual disturbance\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\Neurological disorder\Hereditary disorder of nervous system\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Epileptic encephalopathy\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\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\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\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\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3724044018	Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3724045017	Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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