FHIR IG analytics| Package | tw.gov.mohw.nhi.ngs |
| Resource Type | Observation |
| Id | Observation-obs-nos-min.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Profile: 基因資訊-Observation TWNGS
狀態：final
流水號：114501001011202506011
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-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：TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal (LOINC#21739-8)
基因檢測列表：TP53、KEAP1、KRAS、MTAP、CDKN2A、CDKN2B、ATR、FLT1、NOTCH2、PDGFRA、PMS2、PRDM1、RAC1、RET、ALK、BRAF、EGFR、ERBB2、MET、ROS1 (HGNC Gene ID)
基因檢測分析結果：Present (LOINC Answer List LL1971-2 #LA9633-4)
DNA 變異列表 (c.HGVS)
- NM_001184.3:c.4408G>A (APC) — Substitution
- NM_001184.3:c.2503T>G (APC) — Substitution
- NM_024408.3:c.5403G>T (ARID1A) — Substitution
- NM_006206.4:c.1319C>T (ASXL1) — Substitution
- NM_001198.3:c.1214C>G (ATM) — Substitution
- NM_020975.4:c.874G>A (ATRX) — Substitution
FHIR
FHIRsmith{
"resourceType": "Observation",
"id": "obs-nos-min",
"meta": {
"profile": [
"https://nhicore.nhi.gov.tw/ngs/StructureDefinition/Observation-twngs"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"identifier": [
{
"value": "114501001011202506011"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69548-6"
}
]
},
"subject": {
"reference": "Patient/pat-min"
},
"effectiveDateTime": "2024-07-17",
"performer": [
{
"reference": "Organization/org-gene-min"
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation",
"code": "POS",
"display": "Positive"
}
]
}
],
"method": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
}
]
},
"specimen": {
"reference": "Specimen/spe-min"
},
"device": {
"reference": "Device/dev-min"
},
"derivedFrom": [
{
"reference": "DocumentReference/doc-nos-min"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81247-9",
"display": "Master HL7 genetic variant reporting panel"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "21739-8",
"display": "TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6692-3"
}
]
}
]
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:11998",
"display": "TP53"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:23252",
"display": "KEAP1"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:6407",
"display": "KRAS"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:7392",
"display": "MTAP"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:1787",
"display": "CDKN2A"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:1788",
"display": "CDKN2B"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:882",
"display": "ATR"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:3763",
"display": "FLT1"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:7882",
"display": "NOTCH2"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:8803",
"display": "PDGFRA"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:9122",
"display": "PMS2"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:9346",
"display": "PRDM1"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:9801",
"display": "RAC1"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:9967",
"display": "RET"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:427",
"display": "ALK"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:1097",
"display": "BRAF"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:3236",
"display": "EGFR"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:3430",
"display": "ERBB2"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:7029",
"display": "MET"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:10261",
"display": "ROS1"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_001184.3:c.4408G>A"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6690-7"
}
]
}
]
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_001184.3:c.2503T>G"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6690-7"
}
]
}
]
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_024408.3:c.5403G>T"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6690-7"
}
]
}
]
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_006206.4:c.1319C>T"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6690-7"
}
]
}
]
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_001198.3:c.1214C>G"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6690-7"
}
]
}
]
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_020975.4:c.874G>A"
}
]
},
"interpretation": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6690-7"
}
]
}
]
}
]
}