1303911001: Ferroportin disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Hereditary hemochromatosis\Ferroportin disease
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ferroportin disease
• \Metabolic disease\Hereditary metabolic disease\Hereditary hemochromatosis\Ferroportin disease
• \Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload (disorder)\Hemochromatosis (disorder)\Hereditary hemochromatosis\Ferroportin disease
• \Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload (disorder)\Hemochromatosis (disorder)\Hereditary hemochromatosis\Ferroportin disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5308400017	Haemochromatosis type 4A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5308401018	Ferroportin disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308402013	Ferroportin disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308403015	Hemochromatosis type 4A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5308404014	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5308405010	A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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