719975002: Autosomal dominant hereditary hemochromatosis (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary hemochromatosis\Autosomal dominant hereditary hemochromatosis (disorder)

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary hemochromatosis (disorder)

\Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload (disorder)\Hemochromatosis (disorder)\Hereditary hemochromatosis\Autosomal dominant hereditary hemochromatosis (disorder)

\Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload (disorder)\Hemochromatosis (disorder)\Hereditary hemochromatosis\Autosomal dominant hereditary hemochromatosis (disorder)

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

3318668010 Autosomal dominant hereditary hemochromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318669019 Hemochromatosis type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318672014 Haemochromatosis type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318673016 Autosomal dominant hereditary hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318674010 Autosomal dominant hereditary haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318675011 Ferroportin disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318676012 Hemochromatosis due to defect in ferroportin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318677015 Haemochromatosis due to defect in ferroportin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318678013 A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary hemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3318679017 A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary haemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles haemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3918751000052118 hemokromatos typ 4 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hereditary hemochromatosis (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant hereditary hemochromatosis (disorder)	Is a	Hereditary hemochromatosis	true	Inferred relationship	Some
Autosomal dominant hereditary hemochromatosis (disorder)	Causative agent	järn och/eller järnförening	false	Inferred relationship	Some
Autosomal dominant hereditary hemochromatosis (disorder)	Causative agent	Iron and/or iron compound	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318668010	Autosomal dominant hereditary hemochromatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318669019	Hemochromatosis type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318672014	Haemochromatosis type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318673016	Autosomal dominant hereditary hemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318674010	Autosomal dominant hereditary haemochromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318675011	Ferroportin disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318676012	Hemochromatosis due to defect in ferroportin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318677015	Haemochromatosis due to defect in ferroportin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318678013	A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary hemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318679017	A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary haemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles haemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3918751000052118	hemokromatos typ 4	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)