OMOP Concept 37164436
CNTNAP2-related developmental and epileptic encephalopathy
StandardConditionSNOMED1230376005Disorder
Maps from
1
Descendants
0
Valid from
30 Jun 2022
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
1 source code normalizes to CNTNAP2-related developmental and epileptic encephalopathy via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567657 | Cortical Dysplasia-Focal Epilepsy Syndrome | Non-standard |
Synonyms
Alternative names recorded for CNTNAP2-related developmental and epileptic encephalopathy across source vocabularies.
- CNTNAP2-DEE - CNTNAP2 developmental and epileptic encephalopathy
- CNTNAP2 developmental and epileptic encephalopathy
- Contactin associated protein 2-related developmental and epileptic encephalopathy
- Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder)
- Cortical dysplasia, focal epilepsy syndrome
- encefalopatía epiléptica y del desarrollo asociada al gen CNTNAP2 (proteína asociada a la contactina 2)
- encefalopatía epiléptica y del desarrollo asociada al gen de la proteína asociada a la contactina 2
- encefalopatía epiléptica y del desarrollo asociada al gen de la proteína asociada a la contactina 2 (trastorno)
- síndrome de displasia cortical y epilepsia focal
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(37)Roll up to these when you need a wider cohort.
- 1Abnormal nervous system function
- 1Autosomal recessive hereditary disorder
- 1Developmental and epileptic encephalopathy
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary disorder of nervous system
- 2Autosomal hereditary disorder
- 2Developmental disorder
- 2Disorder of nervous system
- 2Epilepsy
- 2Functional finding
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Neurodevelopmental disorder
- 2Neurological finding
- 3Abnormal behavior
- 3Clinical finding
- 3Disease
- 3Disorder of body system
- 3Impaired cognition
- 3Intellectual ability - finding
- 3OMOP Seizure 1
- 3Seizure disorder
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