Preferred Label : HFE-related hereditary haemochromatosis, Type 1;
ICD-11 definition : Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis
(HH), a group of diseases characterized by excessive tissue iron deposition. Hemochromatosis
type 1 causes chronic fatigue, bronzed skin pigmentation and tissue damage in the
liver, pancreas, joints, bone, endocrine glands, heart, which result in various complications
in adulthood including liver fibrosis (cirrhosis with a risk of hepatocellular carcinoma),
diabetes mellitus, arthropathy, osteoporosis, hypogonadotropic hypogonadism, and cardiac
failure.;
ICD-11 synonym : C282Y/C282Y haemochromatosis; Classic haemochromatosis;
Origin ID : 108432760;
Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis
(HH), a group of diseases characterized by excessive tissue iron deposition. Hemochromatosis
type 1 causes chronic fatigue, bronzed skin pigmentation and tissue damage in the
liver, pancreas, joints, bone, endocrine glands, heart, which result in various complications
in adulthood including liver fibrosis (cirrhosis with a risk of hepatocellular carcinoma),
diabetes mellitus, arthropathy, osteoporosis, hypogonadotropic hypogonadism, and cardiac
failure.
