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syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie (aandoening)
syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie
syndroom van retinitis pigmentosa, hypopituïtarisme, nefroftise en skeletdysplasie
RHYNS-syndroom
RHYNS syndrome
RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
Syndrome with the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. So far, it has been described in four males. Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.
Id723999009
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ61.5
RuleTRUE
AdviceALWAYS Q61.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ78.9
RuleTRUE
AdviceALWAYS Q78.9
CorrelationSNOMED CT source code to target map code correlation not specified