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, phosphocalcic 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
SNOMED CT to Orphanet simple map300547
SNOMED CT to ICD-10 extended map
TargetE83.5
RuleTRUE
AdviceALWAYS E83.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified