| 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. |
| | 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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