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Capra-DeMarco-syndroom (aandoening)
Capra-DeMarco-syndroom
syndroom van familiale scafocefalie en radio-ulnaire synostose
syndroom van craniosynostose, hydrocefalie, malformatie van Arnold-Chiari type 1 en radio-ulnaire synostose
syndroom van Capra-DeMarco
Capra DeMarco syndrome
Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis
Familial scaphocephaly with radioulnar synostosis syndrome
Berant syndrome
Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far.
Id720815000
StatusPrimitive
Associated morphologyherniatie
Finding sitestructuur van cerebellum
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