|||||
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.
Id789063000
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE26.0
TermPrimair hyperaldosteronisme
SNOMED CT to Orphanet simple map369929
SNOMED CT to ICD-10 extended map
TargetE26.0
RuleTRUE
AdviceALWAYS E26.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified