臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build

臺灣次世代基因定序檢測實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 1.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/ngs/ and changes regularly. See the Directory of published versions

: LOINC-健保NGS-基因突變類型值集 - TTL Representation

Active as of 2025-04-30

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

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

<http://hl7.org/fhir/ValueSet/dna-change-type> a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "dna-change-type"] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet dna-change-type</b></p><a name=\"dna-change-type\"> </a><a name=\"hcdna-change-type\"> </a><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/LA6692-3/\">LA6692-3</a></td><td style=\"color: #cccccc\">Deletion</td></tr><tr><td><a href=\"https://loinc.org/LA6686-5/\">LA6686-5</a></td><td style=\"color: #cccccc\">Duplication</td></tr><tr><td><a href=\"https://loinc.org/LA6687-3/\">LA6687-3</a></td><td style=\"color: #cccccc\">Insertion</td></tr><tr><td><a href=\"https://loinc.org/LA6688-1/\">LA6688-1</a></td><td style=\"color: #cccccc\">Insertion/Deletion</td></tr><tr><td><a href=\"https://loinc.org/LA6689-9/\">LA6689-9</a></td><td style=\"color: #cccccc\">Inversion</td></tr><tr><td><a href=\"https://loinc.org/LA6690-7/\">LA6690-7</a></td><td style=\"color: #cccccc\">Substitution</td></tr></table></li></ul></div>"
  ] ;
  fhir:ValueSet.url [ fhir:value "https://nhicore.nhi.gov.tw/ngs/ValueSet/dna-change-type"] ;
  fhir:ValueSet.version [ fhir:value "1.0.1"] ;
  fhir:ValueSet.name [ fhir:value "DNAChangeType"] ;
  fhir:ValueSet.title [ fhir:value "LOINC-健保NGS-基因突變類型值集"] ;
  fhir:ValueSet.status [ fhir:value "active"] ;
  fhir:ValueSet.experimental [ fhir:value "false"^^xsd:boolean] ;
  fhir:ValueSet.date [ fhir:value "2025-04-30"^^xsd:date] ;
  fhir:ValueSet.publisher [ fhir:value "衛生福利部中央健康保險署"] ;
  fhir:ValueSet.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "衛生福利部中央健康保險署" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "https://www.nhi.gov.tw" ]
     ]
  ] ;
  fhir:ValueSet.description [ fhir:value "LOINC-健保NGS-基因突變類型值集"] ;
  fhir:ValueSet.compose [
     fhir:ValueSet.compose.include [
       fhir:index 0 ;
       fhir:ValueSet.compose.include.system [ fhir:value "http://loinc.org" ] ;
       fhir:ValueSet.compose.include.concept [
         fhir:index 0 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6692-3" ]
       ], [
         fhir:index 1 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6686-5" ]
       ], [
         fhir:index 2 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6687-3" ]
       ], [
         fhir:index 3 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6688-1" ]
       ], [
         fhir:index 4 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6689-9" ]
       ], [
         fhir:index 5 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6690-7" ]
       ]
     ]
  ] .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/ValueSet/dna-change-type.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/ValueSet/dna-change-type.ttl> .