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
| | A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
| Id | 724093004 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.8 | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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SNOMED CT to Orphanet simple map | 2668 |
SNOMED CT to ICD-10 extended map | Target | Q87.8 | Rule | TRUE | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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