399187006: Hemochromatosis (disorder)

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

\Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload\Hemochromatosis (disorder)

\Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload\Hemochromatosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1767107013 Hemochromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1778642010 Hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1786734019 Iron storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3013368016 Haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3707731000005112 hæmokromatose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hemochromatosis (disorder)	Is a	Iron overload	true	Inferred relationship	Some
Hemochromatosis (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Hemochromatosis (disorder)	Causative agent	Iron	false	Inferred relationship	Some
Hemochromatosis (disorder)	Causative agent	Jern OG/ELLER jernforbindelse	false	Inferred relationship	Some
Hemochromatosis (disorder)	Causative agent	Iron and/or iron compound	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary hemochromatosis	Is a	True	Hemochromatosis (disorder)	Inferred relationship	Some
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.	Is a	False	Hemochromatosis (disorder)	Inferred relationship	Some
Secondary hemochromatosis	Is a	True	Hemochromatosis (disorder)	Inferred relationship	Some
Neonatal hemochromatosis	Is a	True	Hemochromatosis (disorder)	Inferred relationship	Some
Idiopathic hemochromatosis (disorder)	Is a	True	Hemochromatosis (disorder)	Inferred relationship	Some
hæmosiderose med levercirrose	Is a	False	Hemochromatosis (disorder)	Inferred relationship	Some
Bronze diabetes (disorder)	Is a	True	Hemochromatosis (disorder)	Inferred relationship	Some
Primary hemochromatosis (disorder)	Is a	True	Hemochromatosis (disorder)	Inferred relationship	Some
Hemochromatosis gene screening test (procedure)	Has focus	True	Hemochromatosis (disorder)	Inferred relationship	Some	2
Restrictive cardiomyopathy secondary to hemochromatosis	Associated with	True	Hemochromatosis (disorder)	Inferred relationship	Some	2
Dilated cardiomyopathy due to haemochromatosis	Associated with	False	Hemochromatosis (disorder)	Inferred relationship	Some	2
Family history of hemochromatosis (situation)	Associated finding	False	Hemochromatosis (disorder)	Inferred relationship	Some	1
Family history of hemochromatosis (situation)	Associated finding	True	Hemochromatosis (disorder)	Inferred relationship	Some	1
Family history of hemochromatosis (situation)	Associated finding	False	Hemochromatosis (disorder)	Inferred relationship	Some	1
Hypoparathyroidism due to hemochromatosis (disorder)	Due to	True	Hemochromatosis (disorder)	Inferred relationship	Some	2
Arthropathy due to hemochromatosis (disorder)	Due to	True	Hemochromatosis (disorder)	Inferred relationship	Some	2
Dilated cardiomyopathy due to haemochromatosis	Due to	True	Hemochromatosis (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets