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symptomatische vorm van hemochromatose type 1 (aandoening)
symptomatische vorm van hemochromatose type 1
symptomatische vorm van klassieke hemochromatose
symptomatische vorm van HFE-gerelateerde hemochromatose
symptomatische vorm van ijzerstapelingsziekte type 1
Symptomatic form of hemochromatosis type 1
Symptomatic form of classic hemochromatosis
A rare hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.
Id1237181009
StatusPrimitive
SNOMED CT to Orphanet simple map465508
SNOMED CT to ICD-10 extended map
TargetE83.1
RuleTRUE
AdviceALWAYS E83.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified