NGS IG
0.1.0 - ci-build
NGS IG - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
{
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🔗 "https://www.ghd.tw/cdm-fhir/StructureDefinition/Observation-twngs"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation obs-diagnostic-min</b></p><a name=\"obs-diagnostic-min\"> </a><a name=\"hcobs-diagnostic-min\"> </a><a name=\"obs-diagnostic-min-en-US\"> </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-twngs.html\">基因資訊-Observation TWNGS</a></p></div><p><b>identifier</b>: 101202401021</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</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>performer</b>: <a href=\"Organization-org-gene-min.html\">Organization: identifier = https://dep.mohw.gov.tw#2023LDTB0002</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"Specimen-spe-min.html\">Specimen: identifier = 123-4567; type = Bld; receivedTime = 2024-05-06 09:00:00+0000</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://loinc.org 21636-6}\">BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_005228.4:c.2573T>G}\">NM_005228.4:c.2573T>G</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:3236}\">EGFR</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000007.13:g.55259515T>G}\">NC_000007.13:g.55259515T>G</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 96521657-96521657</p></blockquote></div>"
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🔗 "reference" : "Patient/pat-min"
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