| syndroom van ontwikkelingsachterstand, taalstoornis, L-doparesponsieve dystonie en parkinsonisme (aandoening) | | syndroom van ontwikkelingsachterstand, taalstoornis, L-doparesponsieve dystonie en parkinsonisme | | syndroom van vertraging in ontwikkeling, taalstoornis, ziekte van Segawa en parkinsonisme
| | Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome | | A rare genetic neurological disorder characterized by early-onset global developmental delay, intellectual disability, speech and language impairment, early-onset hypotonia and movement abnormalities (including dystonia and parkinsonism) that are usually L-dopa responsive. Various types of seizures (including tonic-clonic, focal, generalized and absence seizures, infantile spasms and rolandic epilepsy) and behavioral problems (including autism, attention deficit hyperactivity disorder, tantrums, anxiety, and hyposensitivity to temperature and pain) are also reported in the majority of the patients. The severity of the symptoms varies, ranging from mild to severe. Mildly affected individuals exhibit normal early development until the first symptoms appear in infancy including delayed speech and mild intellectual disability. Additional clinical features may include abnormal eye movements, trichotillomania, feeding and sleeping difficulties. Patients may harbor 2q24 microdeletion including the NR4A2 gene or have de novo mutations in this gene. |
| | Id | 1380254000 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | G24.1 | | Rule | TRUE | | Advice | ALWAYS G24.1 | 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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