OMOP Concept 36676621
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
StandardConditionSNOMED773548008Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome across source vocabularies.
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
- encefalopatía epiléptica de inicio temprano, ceguera cortical, discapacidad intelectual y dismorfia facial
- encefalopatía epiléptica de inicio temprano, ceguera cortical, discapacidad intelectual y dismorfia facial (trastorno)
- Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(58)Roll up to these when you need a wider cohort.
- 1Abnormal nervous system function
- 1Autosomal recessive hereditary disorder
- 1Cortical blindness
- 1Developmental and epileptic encephalopathy
- 1Developmental hereditary disorder
- 1Disorder of visual pathways
- 1Genetic intellectual disability
- 1Hereditary disorder of nervous system
- 1Hereditary disorder of the visual system
- 1Multiple malformation syndrome with facial defects as major feature
- 2Autosomal hereditary disorder
- 2Blindness AND/OR vision impairment level
- 2Congenital anomaly of face
- 2Developmental disorder
- 2Disorder of nervous system
- 2Disorder of the central nervous system
- 2Disorder of visual cortex
- 2Epilepsy
- 2Functional finding
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 2Neurodevelopmental disorder
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