719975002: Autosomal dominant hereditary hemochromatosis (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Hereditary haemochromatosis\Haemochromatosis type 4
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Haemochromatosis type 4
• \Metabolic disease\Hereditary metabolic disease\Hereditary haemochromatosis\Haemochromatosis type 4
• \Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload\Haemochromatosis\Hereditary haemochromatosis\Haemochromatosis type 4
• \Malnutrition\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload\Haemochromatosis\Hereditary haemochromatosis\Haemochromatosis type 4

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318668010	Autosomal dominant hereditary hemochromatosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318669019	Hemochromatosis type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3318672014	Haemochromatosis type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3318673016	Autosomal dominant hereditary hemochromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3318674010	Autosomal dominant hereditary haemochromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3318675011	Ferroportin disease	en	Synonym	Active	Case insensitive	SNOMED CT core
3318676012	Hemochromatosis due to defect in ferroportin	en	Synonym	Active	Case insensitive	SNOMED CT core
3318677015	Haemochromatosis due to defect in ferroportin	en	Synonym	Active	Case insensitive	SNOMED CT core
3318678013	A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary hemochromatosis. The disease 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. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core
3318679017	A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary haemochromatosis. The disease 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 haemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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