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syndroom van faciale dysmorfie, macrocefalie, myopie en Dandy-Walker-malformatie (aandoening)
syndroom van faciale dysmorfie, macrocefalie, myopie en Dandy-Walker-malformatie
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
Syndrome with characteristics of Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.
Id733417008
StatusPrimitive
Associated morphologyvergroting
Finding sitegehele hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
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