| syndroom van primair hyperaldosteronisme, epileptische aanvallen en neurologische afwijkingen (aandoening) | | syndroom van primair hyperaldosteronisme, epileptische aanvallen en neurologische afwijkingen | | syndroom van primair hyperaldosteronisme, convulsies en neurologische afwijkingen
syndroom van primair hyperaldosteronisme, insulten en neurologische afwijkingen
| | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | | A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. |
| | Id | 789063000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E26.0 | | Term | Primair hyperaldosteronisme |
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| SNOMED CT to Orphanet simple map | 369929 |
| SNOMED CT to ICD-10 extended map | | Target | E26.0 | | Rule | TRUE | | Advice | ALWAYS E26.0 | 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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