Autosomal dominant hereditary disorder
Disorder of zinc metabolism
Hereditary metabolic disease
Inflammatory disorder
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Hyperzincemia and hypercalprotectinemia (disorder)
Hyperzincemia and hypercalprotectinemia
Recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome
A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.
hyperzinkemie en hypercalprotectinemie
Id771339005
StatusPrimitive
Associated morphologyInflammatory morphology
OccurrenceChildhood
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE83.2
RuleTRUE
AdviceALWAYS E83.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified