| 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. |
| | Id | 1260195002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 589547 |
| SNOMED CT to ICD-10 extended map | | Target | F84.8 | | Rule | TRUE | | Advice | ALWAYS F84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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