autosomaal recessieve hereditaire aandoening
infantiele hypercalciëmie
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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
Has interpretationboven referentiebereik
Interpretsbepalen van calcium in serum
Occurrencezuigelingenperiode
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE83.5
TermStoornissen van calciummetabolisme
SNOMED CT to Orphanet simple map300547
SNOMED CT to ICD-10 extended map
TargetE83.5
RuleTRUE
AdviceALWAYS E83.5
CorrelationSNOMED CT source code to target map code correlation not specified