臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build

臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: 基因變異類型值集

Official URL: http://example.org/ValueSet/genomic-variant-vs Version: 0.1.0
Active as of 2026-03-15 Computable Name: GenomicVariantVS

基因變異類型值集

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem 基因變異類型代碼系統 v0.1.0 (CodeSystem)

This value set contains 5 concepts

SystemCodeDisplay (en)JSONXML
http://example.org/CodeSystem/genomic-variant-cs  transcriptDB轉錄本資料庫名稱
http://example.org/CodeSystem/genomic-variant-cs  transcriptDBVersion轉錄本參考資料庫版本
http://example.org/CodeSystem/genomic-variant-cs  proteinRefId蛋白質參考序列編號
http://example.org/CodeSystem/genomic-variant-cs  totalReadDepth變異區測序總讀數
http://example.org/CodeSystem/genomic-variant-cs  aminoAcidChangeType胺基酸變異類型

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code