|||||||||||
syndroom van ernstige verstandelijke beperking, epilepsie, malformatie van anus, hypoplasie van distale falanx (aandoening)
syndroom van ernstige verstandelijke beperking, epilepsie, malformatie van anus, hypoplasie van distale falanx
syndroom van ernstige verstandelijke handicap, epilepsie, malformatie van anus, hypoplasie van distale falanx
syndroom van ernstige mentale retardatie, epilepsie, malformatie van anus, hypoplasie van distale falanx
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
This syndrome has characteristics of severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in chromosome regions on chromosome 1 and chromosome 14.
Id723676007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van anus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitegehele distale falanx
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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