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aan ionotrope glutamaatreceptor NMDA-type subeenheid 2B-gerelateerd syndroom van ontwikkelingsachterstand, verstandelijke beperking en autismespectrumstoornis (aandoening)
GRIN-2B-gerelateerd syndroom van ontwikkelingsachterstand, verstandelijke beperking en autismespectrumstoornis
syndroom van GRIN-2B-gerelateerde ontwikkelingsachterstand, mentale retardatie en autismespectrumstoornis
aan ionotrope glutamaatreceptor NMDA-type subeenheid 2B-gerelateerd syndroom van ontwikkelingsachterstand, verstandelijke beperking en autismespectrumstoornis
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder
Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder
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.
Id1260195002
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to ICD-10 extended map
TargetF84.8
RuleTRUE
AdviceALWAYS F84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified