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766929007: Genetic hyperferritinemia without iron overload (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3663200016 Genetic hyperferritinemia without iron overload en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663201017 Benign hyperferritinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663202012 Genetic hyperferritinemia without iron overload (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404702019 Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404703012 Genetic hyperferritinaemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterised by an apparently asymptomatic clinical phenotype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3663200016 Genetic hyperferritinemia without iron overload en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663201017 Benign hyperferritinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663202012 Genetic hyperferritinemia without iron overload (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663203019 A rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and with characteristics of an apparently asymptomatic clinical phenotype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404702019 Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404703012 Genetic hyperferritinaemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterised by an apparently asymptomatic clinical phenotype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412021001000118 Hyperferritinämie, hereditäre, ohne Eisenüberladung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988321000172114 hyperferritinémie génétique sans surcharge en fer fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1015211000172111 hyperferritinémie bénigne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988321000172114 hyperferritinémie génétique sans surcharge en fer fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1015211000172111 hyperferritinémie bénigne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412021001000118 Hyperferritinämie, hereditäre, ohne Eisenüberladung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic hyperferritinemia without iron overload Is a Serum ferritin above reference range (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Genetic hyperferritinemia without iron overload Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic hyperferritinemia without iron overload Interprets Serum ferritin measurement true Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic hyperferritinemia without iron overload Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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