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'synaptic Ras GTPase activating protein 1'-gerelateerde verstandelijke beperking (aandoening)
'synaptic Ras GTPase activating protein 1'-gerelateerde verstandelijke beperking
SYNGAP1-syndroom
SYNGAP1-gerelateerde verstandelijke beperking
MRD5-syndroom
SYNGAP1-related intellectual disability
Synaptic Ras GTPase activating protein 1- related intellectual disability
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.
Id780827006
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetF78.9
RuleTRUE
AdviceALWAYS F78.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG40.9
RuleTRUE
AdviceALWAYS G40.9
CorrelationSNOMED CT source code to target map code correlation not specified