50855007: Juvenile hemochromatosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Cardiac finding\...

\Myocardial finding\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.

\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.

\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hemochromatosis\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Metabolic disease\Hereditary metabolic disease\Hereditary hemochromatosis\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload\Hemochromatosis (disorder)\Hereditary hemochromatosis\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.
\Disease\Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload\Hemochromatosis (disorder)\Hereditary hemochromatosis\An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Hemochromatosis	false	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Finding site	Liver structure	false	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Causative agent (attribute)	Iron	false	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Occurrence	Childhood	false	Inferred relationship	Some	2
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Hemochromatosis (disorder)	false	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Finding site	Body system structure	false	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Causative agent (attribute)	Iron AND/OR iron compound	false	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Causative agent (attribute)	Iron and/or iron compound	true	Inferred relationship	Some	1
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Hereditary hemochromatosis	true	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Degenerative disorder	false	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Occurrence	Childhood	true	Inferred relationship	Some	1
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Associated morphology	Deposition of iron	true	Inferred relationship	Some	1
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Hypogonadism	true	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Is a	Cardiomyopathy	true	Inferred relationship	Some
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Finding site	Myocardium structure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Type 2A juvenile hereditary hemochromatosis (disorder)	Is a	True	An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Inferred relationship	Some
Type 2B juvenile hereditary hemochromatosis	Is a	True	An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	Inferred relationship	Some

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
5454079012	An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5454081014	An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by cardiomyopathy and hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
84743011	Juvenile hemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495799017	Juvenile haemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
788689013	Juvenile hemochromatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643576013	Haemochromatosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643577016	Hemochromatosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5454080010	HJV or HAMP-related haemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5454082019	HJV or HAMP-related hemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1812771000195114	emocromatosi giovanile	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4555951000241112	hémochromatose juvénile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
652821000274117	Juvenile Hämochromatose	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447841001000110	Hämochromatose Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module