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Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
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.
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
Id789063000
StatusPrimitive
Finding siteBrain structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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