1186847009: Hemochromatosis type 1 (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Hereditary hemochromatosis\Haemochromatosis type 1

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Haemochromatosis type 1

\Metabolic disease\Hereditary metabolic disease\Hereditary hemochromatosis\Haemochromatosis type 1
\Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload (disorder)\Hemochromatosis (disorder)\Hereditary hemochromatosis\Haemochromatosis type 1

\Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload (disorder)\Hemochromatosis (disorder)\Hereditary hemochromatosis\Haemochromatosis type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4668225019 Haemochromatosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4668226018 Hemochromatosis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4668227010 Hemochromatosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4668470013 HFE related haemochromatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4668471012 HFE related hemochromatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5346261000052118 hemokromatos typ 1 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
Haemochromatosis type 1	Causative agent	Iron and/or iron compound	true	Inferred relationship	Some	1
Haemochromatosis type 1	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Haemochromatosis type 1	Is a	Hereditary hemochromatosis	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Symptomatic form of hemochromatosis type 1 (disorder)	Is a	True	Haemochromatosis type 1	Inferred relationship	Some

This concept is not in any reference sets