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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Synaptic Ras GTPase activating protein 1- related intellectual disability
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Synaptic Ras GTPase activating protein 1- related intellectual disability

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3743656019	SYNGAP1-related intellectual disability	en	Synonym	Active	Case sensitive	SNOMED CT core
3743657011	Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3743658018	Synaptic Ras GTPase activating protein 1- related intellectual disability	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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