719975002: Autosomal dominant hereditary hemochromatosis (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Hereditary hemochromatosis\Autosomal dominant hereditary hemochromatosis (disorder)

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

\Metabolic disease\Hereditary metabolic disease\Hereditary hemochromatosis\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

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	Iron AND/OR iron compound	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