FHIR IG analytics| Package | tw.gov.mohw.nhi.ngs |
| Resource Type | Observation |
| Id | Observation-obs-lung-min.json |
| FHIR Version | R4 |
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Note: links and images are rebased to the (stated) source
Profile: 基因資訊-Observation TWNGS
狀態：final
流水號：11450100101220250601220251212
類型：Laboratory (Observation Category Codes#laboratory)
項目：Genetic variant assessment (LOINC#69548-6)
基因檢測機構：Organization 2023LDTB0002
基因臨床判讀結果：Positive (ObservationInterpretationCodes #POS)
基因檢測方法：Sequencing (LOINC Answer List LL4048-6 #LA26398-0)
基因檢測檢體類型：Specimen/spe-lung-min
基因報告：DocumentReference/doc-lung-min
基因定序儀型號：Device/dev-min
基因檢測日期：2024-07-17
基因檢測項目：FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method (LOINC#38412-3)
基因檢測列表：EGFR、FGFR2、TP53、U2AF1、BCORL1、CIC、CREBBP、EPHB4、FLT1 (HGNC Gene ID)
DNA 變異列表 (c.HGVS)
- NM_021946.4:c.4171G>A (BCORL1) — Substitution
- NM_015125.4:c.496C>T (CIC) — Substitution
- NM_004380.2:c.833A>C (CREBBP) — Substitution
- NM_004444.4:c.2578G>C (EPHB4) — Substitution
FHIR
FHIRsmith{
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"meta": {
"profile": [
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]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"identifier": [
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"status": "final",
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"subject": {
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