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autosomaal recessieve infantiele hypercalciëmie (aandoening)
autosomaal recessieve infantiele hypercalciëmie
Autosomal recessive infantile hypercalcemia
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
A rare genetic phospho-calcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.
Id771445001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE83.5
RuleTRUE
AdviceALWAYS E83.5
CorrelationSNOMED CT source code to target map code correlation not specified