780827006: Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\SYNGAP1-related intellectual disability
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\SYNGAP1-related intellectual disability
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\SYNGAP1-related intellectual disability
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\SYNGAP1-related intellectual disability
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\SYNGAP1-related intellectual disability

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
3743656019	SYNGAP1-related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3743657011	Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3743658018	Synaptic Ras GTPase activating protein 1- related intellectual disability	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3743659014	A neurological disorder with characteristics of moderate to severe intellectual disability that is evident in early childhood. Early manifestations include delayed development of speech and motor skills, hypotonia, developmental regression, recurrent epilepsy, hyperactivity and autism spectrum disorder. Caused by mutations in the SYNGAP1 gene preventing the production of functional SynGAP protein from one copy of the gene which results in reduced protein activity in cells. May be inherited in an autosomal dominant manner or as a new mutation in the gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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