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770431001: Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder)

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
3700827018 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700828011 Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700829015 Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700830013 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5404786019 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404787011 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3700827018 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700828011 Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700829015 Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700830013 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3700831012 A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3700832017 A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404786019 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404787011 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449371001000116 Frühinfantile epileptische Enzephalopathie und Intelligenzminderung durch GRIN2A-Genmutation de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6047061000241113 encéphalopathie épileptique à début précoce et déficience intellectuelle dues à une mutation de GRIN2A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6047061000241113 encéphalopathie épileptique à début précoce et déficience intellectuelle dues à une mutation de GRIN2A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449371001000116 Frühinfantile epileptische Enzephalopathie und Intelligenzminderung durch GRIN2A-Genmutation de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a épilepsie symptomatique false Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 1
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a Childhood seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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