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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 rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Id720408003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1784
SNOMED CT to ICD-10 extended map
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