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syndroom van nefropathie, doofheid en hyperparathyreoïdie (aandoening)
syndroom van nefropathie, doofheid en hyperparathyreoïdie
nefropathie-doofheid-hyperparathyreoïdie-syndroom
Edwards-Patton-Dilly-syndroom
syndroom van Edwards-Patton-Dilly
Nephropathy, deafness, hyperparathyroidism syndrome
Edwards Patton Dilly syndrome
Syndrome that is characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous parents. The mode of inheritance appears to be autosomal recessive.
Id724093004
StatusPrimitive
Associated morphologyhyperplasie
Finding sitestructuur van bijschildklier
Has interpretationgestoord
Interpretsbepalen van nierfunctie
Finding sitestructuur van nier
Interpretsgehoorfunctie
Has interpretationverhoogd
Interpretshormoonsecretie
referentieset met complexe 'mapping' naar ICD-10
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