Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 719975002 |
Code System Concept Name | Autosomal dominant hereditary hemochromatosis (disorder) |
Code System Preferred Concept Name | Autosomal dominant hereditary hemochromatosis (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 01/31/2017 |
SDO Date Created | 01/31/2017 |
SDO Date Revised | 01/31/2017 |
Description | A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary haemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles haemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3318669019 | Hemochromatosis type 4 | Active | Synonym | false | false |
3318672014 | Haemochromatosis type 4 | Active | Synonym | false | false |
3318673016 | Autosomal dominant hereditary hemochromatosis | Active | Synonym | false | false |
3318674010 | Autosomal dominant hereditary haemochromatosis | Active | Synonym | false | false |
3318675011 | Ferroportin disease | Active | Synonym | false | false |
3318676012 | Hemochromatosis due to defect in ferroportin | Active | Synonym | false | false |
3318677015 | Haemochromatosis due to defect in ferroportin | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: