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

CodeSystem: 基因變異類型代碼系統

Official URL: http://example.org/CodeSystem/genomic-variant-cs Version: 0.1.0
Active as of 2026-03-15 Computable Name: GenomicVariantCS

描述基因變異類型，為非LOINC標準之代碼

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system http://example.org/CodeSystem/genomic-variant-cs defines the following codes:

CodeDisplay
transcriptDB 轉錄本資料庫名稱
transcriptDBVersion 轉錄本參考資料庫版本
proteinRefId 蛋白質參考序列編號
totalReadDepth 變異區測序總讀數
aminoAcidChangeType 胺基酸變異類型