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syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie (aandoening)
syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie
RHYNS-syndroom
syndroom van retinitis pigmentosa, hypopituïtarisme, nefroftise en skeletdysplasie
RHYNS syndrome
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
Id723999009
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map140976
SNOMED CT to ICD-10 extended map
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