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\Hemochromatosis (disorder)\Hereditary hemochromatosis\Haemochromatosis type 1

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

1042241000195116 emocromatosi di tipo 1 it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6317861000241110 hémochromatose de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

907131000195115 Hämochromatose Typ 1 de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Haemochromatosis type 1	Causative agent (attribute)	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
A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.	Is a	True	Haemochromatosis type 1	Inferred relationship	Some

This concept is not in any reference sets