50855007: Juvenile hemochromatosis (disorder)

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4643576013	Haemochromatosis type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
4643577016	Hemochromatosis type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
495799017	Juvenile haemochromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
788689013	Juvenile hemochromatosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
84743011	Juvenile hemochromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
4643578014	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.	en	Definition	Active	Case sensitive	SNOMED CT core
4643579018	The early-onset and most severe form of hereditary haemochromatosis a group of diseases characterised by excessive tissue iron deposition of genetic origin. This juvenile form of haemochromatosis has the classical features of HH but is also characterised 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.	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

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