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syndroom van vroegtijdige uiterlijke veroudering, ontwikkelingsachterstand en hartritmestoornis (aandoening)
syndroom van vroegtijdige uiterlijke veroudering, ontwikkelingsachterstand en hartritmestoornis
syndroom van Ogden
vroegtijdige uiterlijke veroudering-ontwikkelingsachterstand-hartritmestoornis-syndroom
Ogden syndrome
Premature aging appearance, developmental delay, cardiac arrhythmia syndrome
A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrhythmia and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28.
Id771442003
StatusPrimitive
Finding sitestructuur van huid
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified