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35400008: Hereditary hemochromatosis (disorder)

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
59062011 Hereditary hemochromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
59062011 Hereditary hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
59063018 Primary hemochromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
59064012 Idiopathic hemochromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
59065013 Familial hemochromatosis en Synonym (core metadata concept) Active Only initial character 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
486146014 Primary haemochromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
486147017 Hereditary haemochromatosis en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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
486149019 Idiopathic haemochromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
767034016 Hereditary hemochromatosis (disorder) en Fully specified name Active Only initial character 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
954481000195111 emocromatosi ereditaria it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
869291000195111 Hereditäre Hämochromatose de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
869301000195110 Vererbte Siderophilie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
90131000172116 hémochromatose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
90131000172116 hémochromatose héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954481000195111 emocromatosi ereditaria it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
869291000195111 Hereditäre Hämochromatose de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
869301000195110 Vererbte Siderophilie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary hemochromatosis Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Is a Hemochromatosis false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Causative agent (attribute) Iron (substance) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Is a Hemochromatosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Causative agent (attribute) Iron AND/OR iron compound false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Causative agent (attribute) Iron and/or iron compound (substance) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary hemochromatosis Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hemochromatosis Is a Hereditary metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hemochromatosis type 3 (disorder) Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary hemochromatosis (disorder) Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
Haemochromatosis type 1 Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
Ferritin heavy chain 1-related iron overload (disorder) Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
A form of rare hemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant. Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations. Is a True Hereditary hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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