臺灣次世代基因定序檢測實作指引
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: 拷貝數變異判讀 - 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 "cnv-interpretation-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 cnv-interpretation-cs</b></p><a name=\"cnv-interpretation-cs\"> </a><a name=\"hccnv-interpretation-cs\"> </a><p>This case-sensitive code system <code>http://example.org/CodeSystem/cnv-interpretation-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\">amplification<a name=\"cnv-interpretation-cs-amplification\"> </a></td><td>Amplification</td></tr><tr><td style=\"white-space:nowrap\">gain<a name=\"cnv-interpretation-cs-gain\"> </a></td><td>Gain</td></tr><tr><td style=\"white-space:nowrap\">duplication<a name=\"cnv-interpretation-cs-duplication\"> </a></td><td>Duplication</td></tr><tr><td style=\"white-space:nowrap\">loss<a name=\"cnv-interpretation-cs-loss\"> </a></td><td>Loss</td></tr><tr><td style=\"white-space:nowrap\">deletion<a name=\"cnv-interpretation-cs-deletion\"> </a></td><td>Deletion</td></tr><tr><td style=\"white-space:nowrap\">homozygous-deletion<a name=\"cnv-interpretation-cs-homozygous-deletion\"> </a></td><td>Homozygous deletion</td></tr><tr><td style=\"white-space:nowrap\">neutral<a name=\"cnv-interpretation-cs-neutral\"> </a></td><td>Neutral</td></tr></table></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "http://example.org/CodeSystem/cnv-interpretation-cs"^^xsd:anyURI ;
fhir:l <http://example.org/CodeSystem/cnv-interpretation-cs>
  ] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "CNVInterpretationCS"] ; # 
  fhir:title [ fhir:v "拷貝數變異判讀"] ; # 
  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 "用於拷貝數變異判讀"] ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "7"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "amplification" ] ;
fhir:display [ fhir:v "Amplification" ]
  ] [
fhir:code [ fhir:v "gain" ] ;
fhir:display [ fhir:v "Gain" ]
  ] [
fhir:code [ fhir:v "duplication" ] ;
fhir:display [ fhir:v "Duplication" ]
  ] [
fhir:code [ fhir:v "loss" ] ;
fhir:display [ fhir:v "Loss" ]
  ] [
fhir:code [ fhir:v "deletion" ] ;
fhir:display [ fhir:v "Deletion" ]
  ] [
fhir:code [ fhir:v "homozygous-deletion" ] ;
fhir:display [ fhir:v "Homozygous deletion" ]
  ] [
fhir:code [ fhir:v "neutral" ] ;
fhir:display [ fhir:v "Neutral" ]
  ] ) . #