|||||||
ernstige neonataal optredende encefalopathie met microcefalie (aandoening)
ernstige neonataal optredende encefalopathie met microcefalie
ernstige congenitale encefalopathie door MECP2-mutatie
ernstige aangeboren encefalopathie door mutatie in methyl-CpG-bindend proteïne 2-gen
Severe neonatal onset encephalopathy with microcephaly
Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation
Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation
Severe congenital encephalopathy due to MECP2 mutation
A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.
Id771303004
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ02
RuleTRUE
AdviceALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified