國家級人體生物資料庫整合平台共同資料模式實作指引(NBCT Common Data Model IG)
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: SSF5 結腸癌-BRAF 基因突變代碼系統 - TTL Representation

Active as of 2024-08-01

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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 -------------------------------------------------------------------

 a fhir:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "ssf-5-colon-codesystem"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem ssf-5-colon-codesystem</b></p><a name=\"ssf-5-colon-codesystem\"> </a><a name=\"hcssf-5-colon-codesystem\"> </a><a name=\"ssf-5-colon-codesystem-en-US\"> </a><p>This case-sensitive code system <code>https://www.ghd.tw/cdm-fhir/fhir/CodeSystem/ssf-5-colon-codesystem</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\">000<a name=\"ssf-5-colon-codesystem-000\"> </a></td><td>BRAF 基因正常/無突變/wild type</td></tr><tr><td style=\"white-space:nowrap\">001<a name=\"ssf-5-colon-codesystem-001\"> </a></td><td>BRAF 基因有突變：突變位置含有 V600E (c.1799T&gt;A)變異</td></tr><tr><td style=\"white-space:nowrap\">002<a name=\"ssf-5-colon-codesystem-002\"> </a></td><td>BRAF 基因有突變：非 V600E (c.1799T&gt;A)變異</td></tr><tr><td style=\"white-space:nowrap\">006<a name=\"ssf-5-colon-codesystem-006\"> </a></td><td>僅描述 BRAF 基因突變，但不確定何種密碼子變異</td></tr><tr><td style=\"white-space:nowrap\">007<a name=\"ssf-5-colon-codesystem-007\"> </a></td><td>有進行 BRAF 基因檢驗，但報告描述為無法判讀</td></tr><tr><td style=\"white-space:nowrap\">988<a name=\"ssf-5-colon-codesystem-988\"> </a></td><td>不適用。(1) GIST、NETs 及 High grade dysplasia (Severe dysplasia) (2) 於外院執行檢查，且無外院檢驗結果</td></tr><tr><td style=\"white-space:nowrap\">999<a name=\"ssf-5-colon-codesystem-999\"> </a></td><td>(1) 病歷未記載或不詳 (2) 沒有檢驗</td></tr></table></div>"
  ] ; # 
  fhir:url [ fhir:v "https://www.ghd.tw/cdm-fhir/fhir/CodeSystem/ssf-5-colon-codesystem"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "SSF5colonCS"] ; # 
  fhir:title [ fhir:v "SSF5 結腸癌-BRAF 基因突變代碼系統"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2024-08-01T15:33:47+08:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "國家級人體生物資料庫整合平台"] ; # 
  fhir:contact ( [
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://ghd.tw/" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "BRAF mutation detection Code System"] ; # 
  fhir:caseSensitive [ fhir:v "true"^^xsd:boolean] ; # 
  fhir:content [ fhir:v "complete"] ; # 
  fhir:count [ fhir:v "7"^^xsd:nonNegativeInteger] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "000" ] ;
fhir:display [ fhir:v "BRAF 基因正常/無突變/wild type" ]
  ] [
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "BRAF 基因有突變：突變位置含有 V600E (c.1799T>A)變異" ]
  ] [
fhir:code [ fhir:v "002" ] ;
fhir:display [ fhir:v "BRAF 基因有突變：非 V600E (c.1799T>A)變異" ]
  ] [
fhir:code [ fhir:v "006" ] ;
fhir:display [ fhir:v "僅描述 BRAF 基因突變，但不確定何種密碼子變異" ]
  ] [
fhir:code [ fhir:v "007" ] ;
fhir:display [ fhir:v "有進行 BRAF 基因檢驗，但報告描述為無法判讀" ]
  ] [
fhir:code [ fhir:v "988" ] ;
fhir:display [ fhir:v "不適用。(1) GIST、NETs 及 High grade dysplasia (Severe dysplasia) (2) 於外院執行檢查，且無外院檢驗結果" ]
  ] [
fhir:code [ fhir:v "999" ] ;
fhir:display [ fhir:v "(1) 病歷未記載或不詳 (2) 沒有檢驗" ]
  ] ) . #