| syndroom van tubulaire nefropathie en cardiomyopathie (aandoening) | | syndroom van tubulaire nefropathie en cardiomyopathie | | syndroom van tubulaire nierziekte en myocardiopathie
| | Tubular renal disease with cardiomyopathy syndrome | | This syndrome is characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. It has been described in two patients, a father and his daughter. The condition shows some similarities to the Gitelman and Bartter syndromes. The mode of transmission appears to be autosomal dominant. |
| | Id | 719839000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | N25.8 | | Term | Overige gespecificeerde aandoeningen als gevolg van gestoorde tubulusfunctie |
| Target | I42.0 | | Term | Cardiomyopathie met hartdilatatie (niet-obstructief) |
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| SNOMED CT to Orphanet simple map | 73224 |
| SNOMED CT to ICD-10 extended map | | Target | N25.8 | | Rule | TRUE | | Advice | ALWAYS N25.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | I42.0 | | Rule | TRUE | | Advice | ALWAYS I42.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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