35400008: Hereditary hemochromatosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hemochromatosis

\Metabolic disease\Hereditary metabolic disease\Hereditary hemochromatosis
\Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload\Hemochromatosis (disorder)\Hereditary hemochromatosis

\Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload\Hemochromatosis (disorder)\Hereditary hemochromatosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

59062011 Hereditary hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

59065013 Familial hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

486147017 Hereditary haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

486148010 Familial haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

767034016 Hereditary hemochromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3805671000005110 hereditær hæmokromatose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hemochromatosis	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Hemochromatosis	false	Inferred relationship	Some
Hereditary hemochromatosis	Finding site	Liver structure	false	Inferred relationship	Some
Hereditary hemochromatosis	Causative agent	Iron	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Hemochromatosis (disorder)	true	Inferred relationship	Some
Hereditary hemochromatosis	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary hemochromatosis	Causative agent	Jern OG/ELLER jernforbindelse	false	Inferred relationship	Some
Hereditary hemochromatosis	Causative agent	Iron and/or iron compound	true	Inferred relationship	Some	1
Hereditary hemochromatosis	Is a	Hereditary disease	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Hereditary metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Autosomal dominant hereditary hemochromatosis (disorder)	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
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.	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Haemochromatosis type 1	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities.	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
A rare subtype of haemochromatosis characterised by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related haemochromatosis is not enough to fully explain the clinical picture of the patient.	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
A form of rare hemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant.	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
A rare disorder of iron metabolism and transport characterised by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anaemia and elevated of serum ferritin levels. Ferroportin disease is distinct from haemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations.	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some

This concept is not in any reference sets