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

Example Observation: obs-biomarker-min

status: Final

code: Biomarker

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number (use: official, ))

effective: 2024-01-01

note:

HRD (Homologous Recombination Deficiency)-high HLA LOH (Human Leukocyte Antigen Loss of Heterozygosity) -HLA-A loss

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: MSI Score

value: 30 % (Details: UCUM code% = '%')

component

code: Microsatellite instability [Interpretation] in Cancer specimen Qualitative

value: MSI-H

component

code: Mutations/Megabase [# Ratio] in Tumor

value: 10 Muts/Mb

component

code: Tumor mutation burden [Interpretation]

value: Low