Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Hearing loss associated with syndrome
Hereditary disorder of endocrine system
Hereditary nephropathy
Parathyroid hyperplasia
Renal failure syndrome
Sensorineural hearing loss
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Nephropathy, deafness, hyperparathyroidism syndrome (disorder)
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.
syndroom van nefropathie, doofheid en hyperparathyreoïdie
nefropathie-doofheid-hyperparathyreoïdie-syndroom
Edwards-Patton-Dilly-syndroom
syndroom van Edwards-Patton-Dilly
Id724093004
StatusPrimitive
InterpretsHearing
Has interpretationIncreased
InterpretsHormone secretion
Finding siteStructure of auditory system
Associated morphologyHyperplasia
Finding siteParathyroid structure
Has interpretationImpaired
InterpretsMeasurement of renal function
Finding siteKidney structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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