719974003: Hemochromatosis type 3 (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5402286016	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402287013	A form of rare haemochromatosis (HC) characterised by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318663018	Hemochromatosis type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318664012	Hemochromatosis type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318665013	Haemochromatosis type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318670018	TFR2 (transferrin receptor 2 gene) related hemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318671019	TFR2 (transferrin receptor 2 gene) related haemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
960051000195111	emocromatosi di tipo 3	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
903531000172114	hémochromatose type 3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1004841000172113	hémochromatose liée à TFR2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438491001000115	Hämochromatose Typ 3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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