1237181009: Symptomatic form of hemochromatosis type 1 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Hereditary haemochromatosis\Haemochromatosis type 1\Symptomatic form of haemochromatosis type 1
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Haemochromatosis type 1\Symptomatic form of haemochromatosis type 1
• \Metabolic disease\Hereditary metabolic disease\Hereditary haemochromatosis\Haemochromatosis type 1\Symptomatic form of haemochromatosis type 1
• \Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload\Haemochromatosis\Hereditary haemochromatosis\Haemochromatosis type 1\Symptomatic form of haemochromatosis type 1
• \Malnutrition\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload\Haemochromatosis\Hereditary haemochromatosis\Haemochromatosis type 1\Symptomatic form of haemochromatosis type 1

Status: current, Primitive. Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5090967013	Symptomatic form of hemochromatosis type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5090968015	Symptomatic form of classic hemochromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
5090969011	Symptomatic form of hemochromatosis type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
5090970012	Symptomatic form of classic haemochromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
5090971011	Symptomatic form of haemochromatosis type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
5090985018	A rare hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	en	Definition	Active	Case sensitive	SNOMED CT core
5090986017	A rare hereditary haemochromatosis characterised by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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