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719974003: Hemochromatosis type 3 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318663018 Hemochromatosis type 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318664012 Hemochromatosis type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318665013 Haemochromatosis type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318670018 TFR2 (transferrin receptor 2 gene) related hemochromatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318671019 TFR2 (transferrin receptor 2 gene) related haemochromatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402286016 A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402287013 A form of rare haemochromatosis (HC) characterised by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hemochromatosis type 3 (disorder) Is a Hereditary hemochromatosis true Inferred relationship Some
Hemochromatosis type 3 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hemochromatosis type 3 (disorder) Causative agent Iron AND/OR iron compound false Inferred relationship Some
Hemochromatosis type 3 (disorder) Causative agent Iron and/or iron compound true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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