| sinusknoopdisfunctie en doofheid (aandoening) | | sinusknoopdisfunctie en doofheid | | Sinoatrial node dysfunction and deafness | | A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. |
| | Id | 770784003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | I49.8 | | Term | Overige gespecificeerde hartritmestoornissen |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 324321 |
| SNOMED CT to ICD-10 extended map | | Target | I49.8 | | Rule | TRUE | | Advice | ALWAYS I49.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
