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
{
"resourceType" : "Observation",
"id" : "obs-geneinfo-min",
"meta" : {
"profile" : [
🔗 "http://example.org/StructureDefinition/Observation-geneInfo-twngs"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-geneinfo-min</b></p><a name=\"obs-geneinfo-min\"> </a><a name=\"hcobs-geneinfo-min\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Observation-geneInfo-twngs.html\">基因資訊-Observation GeneInfo TWNGS</a></p></div><p><b>identifier</b>: <code>http://example.org/identifier/case-number</code>/123456</p><p><b>status</b>: Final</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span></p><p><b>subject</b>: <a href=\"Patient-pat-min.html\">王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))</a></p><p><b>effective</b>: 2024-01-01</p><p><b>specimen</b>: <a href=\"Specimen-spe-bld-min.html\">Specimen: identifier = 123-4567; type = Bld</a></p><p><b>device</b>: <a href=\"Device-dev-min.html\">Device: modelNumber = HiSeq 4000 System</a></p><p><b>derivedFrom</b>: <a href=\"DocumentReference-doc-gene-min.html\">DocumentReference: status = current</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs testGeneList}\">完整基因清單</span></p><p><b>value</b>: HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs testTargetGeneNumber}\">檢測目標基因個數</span></p><p><b>value</b>: 15</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs ngsLibraryPrepKit}\">建庫試劑組廠牌</span></p><p><b>value</b>: Ion Xpress™ Plus Fragment Library Kit</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestTotalReads}\">定序總讀數</span></p><p><b>value</b>: 2654265</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs geneTestMeanDepth}\">平均測序深度</span></p><p><b>value</b>: 456 x</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs refSeqAssemblyVersion}\">人類參考基因組版本</span></p><p><b>value</b>: GRCh38</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs percentMappedReads}\">對準成功率</span></p><p><b>value</b>: 96.4 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs tumorGeneVarAssessment}\">腫瘤基因檢測數據判讀</span></p><p><b>value</b>: <span title=\"Codes:{http://example.org/CodeSystem/tumor-gene-test-assessment-cs present}\">present</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://example.org/CodeSystem/gene-test-info-cs clinicalInterpretation}\">基因臨床判讀結果</span></p><p><b>value</b>: 文字描述臨床判讀結果</p></blockquote></div>"
},
"identifier" : [
{
"system" : "http://example.org/identifier/case-number",
"value" : "123456"
}
],
"status" : "final",
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "51969-4"
}
]
},
"subject" : {
🔗 "reference" : "Patient/pat-min"
},
"effectiveDateTime" : "2024-01-01",
"specimen" : {
🔗 "reference" : "Specimen/spe-bld-min"
},
"device" : {
🔗 "reference" : "Device/dev-min"
},
"derivedFrom" : [
{
🔗 "reference" : "DocumentReference/doc-gene-min"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "testGeneList"
}
]
},
"valueString" : "HGNC:583,HGNC:3236,HGNC:7127,HGNC:8975,HGNC:8979,HGNC:7029,HGNC:20709,HGNC:1100,HGNC:3765,HGNC:11998,HGNC:1097,HGNC:427,HGNC:9588,HGNC:3430,HGNC:1316"
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "testTargetGeneNumber"
}
]
},
"valueQuantity" : {
"value" : 15
}
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "ngsLibraryPrepKit"
}
]
},
"valueString" : "Ion Xpress™ Plus Fragment Library Kit"
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "geneTestTotalReads"
}
]
},
"valueQuantity" : {
"value" : 2654265
}
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "geneTestMeanDepth"
}
]
},
"valueQuantity" : {
"value" : 456,
"unit" : "x"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "refSeqAssemblyVersion"
}
]
},
"valueString" : "GRCh38"
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "percentMappedReads"
}
]
},
"valueQuantity" : {
"value" : 96.4,
"unit" : "%",
"system" : "http://unitsofmeasure.org",
"code" : "%"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "tumorGeneVarAssessment"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/tumor-gene-test-assessment-cs",
"code" : "present"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://example.org/CodeSystem/gene-test-info-cs",
"code" : "clinicalInterpretation"
}
]
},
"valueString" : "文字描述臨床判讀結果"
}
]
}