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syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie (aandoening)
syndroom van ichthyosis, kleine gestalte, brachydactylie en microsferofakie
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome
15q26.3 microdeletion syndrome
A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia.
Id783551005
StatusPrimitive
Has interpretationafwijkend
Interpretskeratinisatie
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified