780827006: 'synaptic Ras GTPase activating protein 1'-gerelateerde verstandelijke beperking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\SYNGAP1-related intellectual disability

\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

\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

6926581000146115 SYNGAP1-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6926591000146118 'synaptic Ras GTPase activating protein 1'-gerelateerde verstandelijke beperking nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6926601000146111 MRD5-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7134531000146114 SYNGAP1-gerelateerde verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7394361000146111 'synaptic Ras GTPase activating protein 1'-gerelateerde verstandelijke beperking (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
SYNGAP1-related intellectual disability	Is a	epileptische aanval op kinderleeftijd	false	Inferred relationship	Some
SYNGAP1-related intellectual disability	Occurrence	Early childhood (qualifier value)	true	Inferred relationship	Some	1
SYNGAP1-related intellectual disability	Is a	Intellectual disability	true	Inferred relationship	Some
SYNGAP1-related intellectual disability	Is a	Epilepsy	true	Inferred relationship	Some
SYNGAP1-related intellectual disability	Finding site	Cerebrum	true	Inferred relationship	Some	1
SYNGAP1-related intellectual disability	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
SYNGAP1-related intellectual disability	Is a	Mental disorder in childhood	false	Inferred relationship	Some
SYNGAP1-related intellectual disability	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
SYNGAP1-related intellectual disability	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
SYNGAP1-related intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	2
SYNGAP1-related intellectual disability	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
SYNGAP1-related intellectual disability	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
6926581000146115	SYNGAP1-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6926591000146118	'synaptic Ras GTPase activating protein 1'-gerelateerde verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6926601000146111	MRD5-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7134531000146114	SYNGAP1-gerelateerde verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7394361000146111	'synaptic Ras GTPase activating protein 1'-gerelateerde verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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