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 | 765057007 |
Code System Concept Name | BRCA1 associated protein 1 tumor predisposition syndrome (disorder) |
Code System Preferred Concept Name | BRCA1 associated protein 1 tumor predisposition syndrome (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Superseded By Concept | |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 | 07/31/2018 |
SDO Date Created | 07/31/2018 |
SDO Date Revised | 07/31/2018 |
Description | An inherited disorder that increases the risk of a variety of malignant and benign tumours most commonly occurring in the skin, eyes, kidneys, chest, abdomen and mesothelium. Affected individuals can develop one or more types of neoplasm and affected members of the same family can have different types. Malignancies arise at a younger age, are often more aggressive and tend metastasise. The disease is caused by mutations in the BAP1 gene. In addition to a germline mutation in one copy of the gene, a second somatic mutation usually occurs in the normal copy of the gene in cells that give rise to neoplasms. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumour cells. Inherited in an autosomal dominant pattern, in most cases, an affected person has one parent with the condition. People with a mutation in the BAP1 gene inherit an increased risk of tumour formation however not all will develop a tumour. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3656218011 | BAP1-related tumor predisposition syndrome | Active | Synonym | false | false |
3656220014 | Tumour susceptibility associated with germline BAP1 mutation | Active | Synonym | false | false |
3656221013 | Tumor susceptibility associated with germline BAP1 mutation | Active | Synonym | false | false |
3656222018 | BAP1 tumor predisposition syndrome | Active | Synonym | false | false |
3656223011 | BRCA1 associated protein 1 tumor predisposition syndrome | Active | Synonym | false | false |
3656224017 | BRCA1 associated protein 1 tumour predisposition syndrome | Active | Synonym | false | false |
3656225016 | BAP1 tumour predisposition syndrome | Active | Synonym | false | false |
3780478016 | BAP1-related tumour predisposition syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
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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
- Message Guides
- Developer's Guide
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: