1260195002: Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
• \Disease\Genetic disease\GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
• \Disease\Developmental disorder\Developmental delay\GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder

Status: current, Primitive. Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159667013	GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
5159668015	Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5159670012	Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5159669011	A rare genetic syndromic intellectual disability characterised by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder/behavioural issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic or choreiform movement disorder and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged or dysplastic basal ganglia and hippocampal dysplasia.	en	Definition	Active	Case sensitive	SNOMED CT core
5159671011	A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder/behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic or choreiform movement disorder and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged or dysplastic basal ganglia and hippocampal dysplasia.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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