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acrofrontofacionasale dysostose (aandoening)
acrofrontofacionasale dysostose
syndroom van Richieri-Costa-Colletto
Acrofrontofacionasal dysostosis
Richieri Costa Colletto syndrome
Acro-fronto-facio-nasal dysostosis
A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration.
Id720408003
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ75.1
RuleTRUE
AdviceALWAYS Q75.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified