juveniele hemochromatose (aandoening)
juveniele hemochromatose
juveniele ijzerstapelingsziekte
Juvenile hemochromatosis
Hemochromatosis type 2
The early-onset and most severe form of hereditary hemochromatosis a group of diseases characterized by excessive tissue iron deposition of genetic origin. This juvenile form of hemochromatosis has the classical features of HH but is also characterized by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent. Two types of the disease have been described, both being transmitted in an autosomal recessive way.
Associated morphologydepositie van ijzer
Causative agentijzer en ijzerverbinding
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map79230
SNOMED CT to ICD-10 extended map
AdviceALWAYS E83.1
CorrelationSNOMED CT source code to target map code correlation not specified