35400008: hereditaire hemochromatose (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hemochromatosis

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

59062011 Hereditary hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

59065013 Familial hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

486147017 Hereditary haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

486148010 Familial haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

767034016 Hereditary hemochromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

346231000146110 erfelijke hemochromatose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8617631000146118 hereditaire hemochromatose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8662421000146118 hereditaire hemochromatose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hemochromatosis	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Hemochromatosis	false	Inferred relationship	Some
Hereditary hemochromatosis	Finding site	Liver structure	false	Inferred relationship	Some
Hereditary hemochromatosis	Causative agent	Iron	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Hemochromatosis (disorder)	true	Inferred relationship	Some
Hereditary hemochromatosis	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary hemochromatosis	Causative agent	Iron AND/OR iron compound	false	Inferred relationship	Some
Hereditary hemochromatosis	Causative agent	Iron and/or iron compound	true	Inferred relationship	Some	1
Hereditary hemochromatosis	Is a	Hereditary disease	false	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Hereditary metabolic disease	true	Inferred relationship	Some
Hereditary hemochromatosis	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemochromatosis type 3 (disorder)	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Autosomal dominant hereditary hemochromatosis (disorder)	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Juvenile hemochromatosis	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Haemochromatosis type 1	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
FTH1-related iron overload	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Digenic haemochromatosis	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Solute carrier family 40 member 1-related hemochromatosis (disorder)	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some
Ferroportin disease	Is a	True	Hereditary hemochromatosis	Inferred relationship	Some

This concept is not in any reference sets