臺灣次世代基因定序檢測實作指引
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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

: 基因變異類型代碼系統 - TTL Representation

Active as of 2026-03-15

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "genomic-variant-cs"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem genomic-variant-cs</b></p><a name=\"genomic-variant-cs\"> </a><a name=\"hcgenomic-variant-cs\"> </a><p>This case-sensitive code system <code>http://example.org/CodeSystem/genomic-variant-cs</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">transcriptDB<a name=\"genomic-variant-cs-transcriptDB\"> </a></td><td>轉錄本資料庫名稱</td></tr><tr><td style=\"white-space:nowrap\">transcriptDBVersion<a name=\"genomic-variant-cs-transcriptDBVersion\"> </a></td><td>轉錄本參考資料庫版本</td></tr><tr><td style=\"white-space:nowrap\">proteinRefId<a name=\"genomic-variant-cs-proteinRefId\"> </a></td><td>蛋白質參考序列編號</td></tr><tr><td style=\"white-space:nowrap\">totalReadDepth<a name=\"genomic-variant-cs-totalReadDepth\"> </a></td><td>變異區測序總讀數</td></tr><tr><td style=\"white-space:nowrap\">aminoAcidChangeType<a name=\"genomic-variant-cs-aminoAcidChangeType\"> </a></td><td>胺基酸變異類型</td></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "http://example.org/CodeSystem/genomic-variant-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/genomic-variant-cs>
  ] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "GenomicVariantCS"] ; # 
  fhir:title [ fhir:v "基因變異類型代碼系統"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2026-03-15"^^xsd:date] ; # 
  fhir:publisher [ fhir:v "衛生福利部中央健康保險署"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "衛生福利部中央健康保險署" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nhi.gov.tw/ch/mp-1.html" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "描述基因變異類型，為非LOINC標準之代碼"] ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "5"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "transcriptDB" ] ;
fhir:display [ fhir:v "轉錄本資料庫名稱" ]
  ] [
fhir:code [ fhir:v "transcriptDBVersion" ] ;
fhir:display [ fhir:v "轉錄本參考資料庫版本" ]
  ] [
fhir:code [ fhir:v "proteinRefId" ] ;
fhir:display [ fhir:v "蛋白質參考序列編號" ]
  ] [
fhir:code [ fhir:v "totalReadDepth" ] ;
fhir:display [ fhir:v "變異區測序總讀數" ]
  ] [
fhir:code [ fhir:v "aminoAcidChangeType" ] ;
fhir:display [ fhir:v "胺基酸變異類型" ]
  ] ) . #