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syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht (aandoening)
syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht
syndroom van Heide
Heide syndrome
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome
Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome
This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.
Id716189005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyvergroting
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretshoofdomtrek
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified