Autosomal recessive hereditary disorder	Hereditary metabolic disease	Infantile hypercalcemia
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Autosomal recessive infantile hypercalcemia (disorder)
	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.
	autosomaal recessieve infantiele hypercalciëmie

Id	771445001
Status	Primitive

Has interpretation	Above reference range
Interprets	Serum calcium measurement

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E83.5
Rule	TRUE
Advice	ALWAYS E83.5
Correlation	SNOMED CT source code to target map code correlation not specified