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syndroom van nefronoftise en leverfibrose (aandoening)
syndroom van nefronoftise en leverfibrose
ziekte van Boichis
Boichis syndrome
Boichis disease
Nephronophthisis hepatic fibrosis syndrome
This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
Id717187000
StatusPrimitive
Associated morphologyfibrose
Finding sitestructuur van lever
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ61.5
RuleTRUE
AdviceALWAYS Q61.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ44.7
RuleTRUE
AdviceALWAYS Q44.7
CorrelationSNOMED CT source code to target map code correlation not specified