Terminology chevron_right Descriptions chevron_right 3700830013 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation (en)

Component

3700830013

The component that hold information about this description.

Concept

770431001 |Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a mutation (disorder)|

Identifies the concept to which this description applies. Set to the identifier of a concept with id 138875005

Language Code

en

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Type

900000000000013009 |Synonym (core metadata concept)|

Identifies whether the description is fully specified name a synonym or other description type. This field is set to a child of 900000000000446008

Term

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation

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Case Significance

900000000000020002 |Only initial character case insensitive (core metadata concept)|

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Acceptability

Acceptable