Preferred Label : Non-HFE-related hereditary haemochromatosis, Type 4;
ICD-11 definition : Hemochromatosis type 4 (also called ferroportin disease) is a rare form of hereditary
hemochromatosis, a group of diseases characterized by excessive tissue iron deposition
of genetic origin. It is phenotypically heterogeneous with two sub-types. Ferroportin
disease form A is the usual form and is generally asymptomatic with no tissue damage
and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis
type 1, but can affect children.;
ICD-11 synonym : Ferroportin disease; Haemochromatosis due to defect in ferroportin; Autosomal dominant hereditary haemochromatosis;
Origin ID : 1541297428;
UMLS CUI : C1853733;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Hemochromatosis type 4 (also called ferroportin disease) is a rare form of hereditary
hemochromatosis, a group of diseases characterized by excessive tissue iron deposition
of genetic origin. It is phenotypically heterogeneous with two sub-types. Ferroportin
disease form A is the usual form and is generally asymptomatic with no tissue damage
and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis
type 1, but can affect children.
