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
Logical Model: 次世代基因定序檢測之資料模型
| Official URL: http://example.org/StructureDefinition/NGSModel | Version: 0.1.0 | |||
| Draft as of 2026-03-04 | Computable Name: NGSModel | |||
次世代基因定序檢測之資料模型，此邏輯模型為定義次世代基因定序檢測情境下使用的所有資料欄位。 為了便於實作者快速理解，資料欄位會使用易於理解的命名，實作者再透過邏輯模型中的功能頁籤「Mappings」
Usages:
- This Logical Model is not used by any profiles in this Implementation Guide
You can also check for usages in the FHIR IG Statistics
Formal Views of Profile Content
Description of Profiles, Differentials, Snapshots and how the different presentations work.
| Name | Flags | Card. | Type | Description & Constraints Filter:   |
|---|---|---|---|---|
  ApplyModel |
0..* | Base | 申請(Apply)次世代基因定序檢測之資料模型 | |
  patient |
1..1 | BackboneElement | 病人資訊 | |
   @id |
0..1 | string | Unique id for inter-element referencing | |
 extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
 modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| patientId |
0..1 | string | 病歷號 | |
| patientName |
0..1 | HumanName | 姓名 | |
| idCardNumber |
1..1 | string | 身分證字號 | |
| birthDate |
1..1 | date | 出生日期 | |
 gender |
1..1 | code | 病人性別 | |
| hospital |
1..1 | BackboneElement | 院所資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| caseSerialNumber |
1..1 | Identifier | 案件流水號 | |
| hospitalId |
1..1 | string | 醫事機構代碼 | |
| expenseDate |
1..1 | dateTime | 費用年月 | |
| applyType |
1..1 | CodeableConcept | 申報類別 | |
| applyDate |
1..1 | dateTime | 申報日期 | |
| caseCategory |
1..1 | CodeableConcept | 案件分類 | |
| apply |
1..1 | BackboneElement | 申請項目 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsGeneTestApplyNumber |
0..1 | Identifier | NGS檢測編號(VPN取號) | |
| medicOrderCode |
0..1 | CodeableConcept | 醫令代碼 | |
| ngsGeneTestDate |
0..* | dateTime | 基因檢測日期 | |
| ngsGeneTestMethod |
0..* | CodeableConcept | 基因檢測方法 | |
| diseaseCharacterization |
0..1 | BackboneElement | 疾病資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
| diagnosisDate |
1..1 | date | 診斷日期 | |
| diagnosisCurrentStatus |
0..* | code | 簡要病摘。連結院內HIS系統之簡要病摘，或填寫原基因定序檢測之申請理由。 | |
| documentReference |
0..1 | BackboneElement | 基因檢測報告檔案 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestReportFileType |
1..1 | code | 基因檢測報告檔案類型 | |
| geneTestReportFilePath |
1..1 | base64Binary | 基因檢測報告路徑 | |
| geneTestReportTitle |
1..1 | string | 基因檢測報告名稱 | |
| sequencingSample |
1..1 | BackboneElement | 檢體資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorSpecimenPatholNumber |
1..1 | Identifier | 檢體病理編號 | |
| tumorSpecimenCollectDate |
1..1 | dateTime | 檢體採集日期 | |
| tumorSpecimenCollectBodySite |
1..1 | CodeableConcept | 標本來源部位 | |
| tumorSpecimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| percentTumorCellularity |
0..1 | Quantity | 腫瘤細胞比例 | |
| geneTestInfo |
1..1 | BackboneElement | 基因檢測資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestLdtsID |
0..1 | code | 特管案號 | |
| geneTestName |
0..1 | string | 基因檢測名稱 | |
| geneTestLab |
0..1 | string | 基因檢測機構 | |
| testGeneList |
0..* | BackboneElement | 完整基因清單 | |
| testTargetGeneNumber |
0..1 | Quantity | 檢測目標基因個數 | |
| ngsInfo |
1..1 | BackboneElement | 定序儀資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsPlatforms |
1..1 | string | 定序儀平台名稱 | |
| sequencerModel |
1..1 | string | 定序儀型號 | |
| ngsLibraryPrepKit |
0..1 | string | 建庫試劑組廠牌 | |
| geneTestTotalReads |
1..1 | Quantity | 定序總讀數 | |
| geneTestMeanDepth |
0..1 | Quantity | 平均測序深度 | |
| refSeqAssemblyVersion |
1..1 | string | 人類參考基因組版本 | |
| percentMappedReads |
0..1 | Quantity | 對準成功率 | |
 ngsGeneTestResults |
1..* | BackboneElement | 基因檢測結果 | |
 @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestFindings |
1..* | BackboneElement | 基因檢測評估資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorGeneVarAssessment |
1..1 | CodeableConcept | 腫瘤基因檢測數據判讀 | |
| geneTestClinicalAssessment |
0..1 | string | 基因臨床判讀結果 | |
| smallVariants |
0..* | BackboneElement | 短序列變異資料 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| transcriptDatabaseName |
0..* | string | 轉錄本參考資料庫名稱 | |
| transcriptDatabaseRelease |
0..* | string | 轉錄本參考資料庫版本 | |
| transcriptID |
0..* | string | 轉錄本參考序列 | |
| dnaChange |
0..* | string | DNA變異 (c.HGVS) | |
| variantGeneSymbol |
0..* | string | 變異基因符號 | |
| aminoAcidChange |
0..* | string | 胺基酸變異(pHGVS) | |
| variantAllelicFrequency |
0..* | Quantity | 基因變異比例 | |
| dnaChangeType |
0..* | CodeableConcept | DNA變異類型 | |
| genomicRefSeqID |
0..* | string | 基因組參考序列 | |
| genomicDnaChange |
0..* | string | 基因組DNA變異 (gHGVS) | |
| proteinRefSeqID |
0..* | string | 蛋白質參考序列編號 | |
| aminoAcidChangeType |
0..* | CodeableConcept | 胺基酸變異類型 | |
| variantReadCount |
0..* | Quantity | 變異測序讀數 | |
| variantTotalReadCount |
0..* | Quantity | 變異區測序總讀數 | |
| geneFusions |
0..* | BackboneElement | 基因融合資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| fusedTargetGenAndPartner |
1..* | string | 基因融合 | |
| geneFusionVaf |
0..* | Quantity | 基因融合變異比例 | |
| copyNumberAlterations |
0..* | BackboneElement | 基因拷貝數變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| cnvGeneSymbol |
1..* | string | 拷貝數變異基因符號 | |
| cnvValue |
0..* | Quantity | 拷貝數變異數 | |
| cnvInterpret |
1..* | CodeableConcept | 拷貝數變異判讀 | |
| otherTypeVariant |
0..* | BackboneElement | 其他變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| otherTypeVarGeneSymbol |
1..* | string | 其他變異基因符號 | |
| otherTypeVarGeneEffect |
1..* | string | 其他變異影響 | |
| biomarker |
0..* | BackboneElement | 基因生物標記資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| msiScore |
0..1 | Quantity | 衛星不穩定性數值 | |
| msiInterpretation |
0..1 | CodeableConcept | 衛星不穩定性判讀 | |
| tumorMutationBurdon |
0..1 | Quantity | 腫瘤突變負荷數值 | |
| tmbInterpretation |
0..1 | CodeableConcept | 腫瘤突變負荷判讀 | |
| biomarkerTypeAndInterpret |
0..1 | string | 其他生物標記類型與判讀 | |
| Documentation for this format | ||||
Constraints
| Id | Grade | Path(s) | Description | Expression |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
This structure is derived from Base
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| ApplyModel |
0..* | Base | 申請(Apply)次世代基因定序檢測之資料模型 | |
| patient |
1..1 | BackboneElement | 病人資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| patientId |
0..1 | string | 病歷號 | |
| patientName |
0..1 | HumanName | 姓名 | |
| idCardNumber |
1..1 | string | 身分證字號 | |
| birthDate |
1..1 | date | 出生日期 | |
| gender |
1..1 | code | 病人性別 | |
| hospital |
1..1 | BackboneElement | 院所資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| caseSerialNumber |
1..1 | Identifier | 案件流水號 | |
| hospitalId |
1..1 | string | 醫事機構代碼 | |
| expenseDate |
1..1 | dateTime | 費用年月 | |
| applyType |
1..1 | CodeableConcept | 申報類別 | |
| applyDate |
1..1 | dateTime | 申報日期 | |
| caseCategory |
1..1 | CodeableConcept | 案件分類 | |
| apply |
1..1 | BackboneElement | 申請項目 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsGeneTestApplyNumber |
0..1 | Identifier | NGS檢測編號(VPN取號) | |
| medicOrderCode |
0..1 | CodeableConcept | 醫令代碼 | |
| ngsGeneTestDate |
0..* | dateTime | 基因檢測日期 | |
| ngsGeneTestMethod |
0..* | CodeableConcept | 基因檢測方法 | |
| diseaseCharacterization |
0..1 | BackboneElement | 疾病資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
| diagnosisDate |
1..1 | date | 診斷日期 | |
| diagnosisCurrentStatus |
0..* | code | 簡要病摘。連結院內HIS系統之簡要病摘，或填寫原基因定序檢測之申請理由。 | |
| documentReference |
0..1 | BackboneElement | 基因檢測報告檔案 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestReportFileType |
1..1 | code | 基因檢測報告檔案類型 | |
| geneTestReportFilePath |
1..1 | base64Binary | 基因檢測報告路徑 | |
| geneTestReportTitle |
1..1 | string | 基因檢測報告名稱 | |
| sequencingSample |
1..1 | BackboneElement | 檢體資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorSpecimenPatholNumber |
1..1 | Identifier | 檢體病理編號 | |
| tumorSpecimenCollectDate |
1..1 | dateTime | 檢體採集日期 | |
| tumorSpecimenCollectBodySite |
1..1 | CodeableConcept | 標本來源部位 | |
| tumorSpecimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| percentTumorCellularity |
0..1 | Quantity | 腫瘤細胞比例 | |
| geneTestInfo |
1..1 | BackboneElement | 基因檢測資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestLdtsID |
0..1 | code | 特管案號 | |
| geneTestName |
0..1 | string | 基因檢測名稱 | |
| geneTestLab |
0..1 | string | 基因檢測機構 | |
| testGeneList |
0..* | BackboneElement | 完整基因清單 | |
| testTargetGeneNumber |
0..1 | Quantity | 檢測目標基因個數 | |
| ngsInfo |
1..1 | BackboneElement | 定序儀資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsPlatforms |
1..1 | string | 定序儀平台名稱 | |
| sequencerModel |
1..1 | string | 定序儀型號 | |
| ngsLibraryPrepKit |
0..1 | string | 建庫試劑組廠牌 | |
| geneTestTotalReads |
1..1 | Quantity | 定序總讀數 | |
| geneTestMeanDepth |
0..1 | Quantity | 平均測序深度 | |
| refSeqAssemblyVersion |
1..1 | string | 人類參考基因組版本 | |
| percentMappedReads |
0..1 | Quantity | 對準成功率 | |
| ngsGeneTestResults |
1..* | BackboneElement | 基因檢測結果 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestFindings |
1..* | BackboneElement | 基因檢測評估資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorGeneVarAssessment |
1..1 | CodeableConcept | 腫瘤基因檢測數據判讀 | |
| geneTestClinicalAssessment |
0..1 | string | 基因臨床判讀結果 | |
| smallVariants |
0..* | BackboneElement | 短序列變異資料 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| transcriptDatabaseName |
0..* | string | 轉錄本參考資料庫名稱 | |
| transcriptDatabaseRelease |
0..* | string | 轉錄本參考資料庫版本 | |
| transcriptID |
0..* | string | 轉錄本參考序列 | |
| dnaChange |
0..* | string | DNA變異 (c.HGVS) | |
| variantGeneSymbol |
0..* | string | 變異基因符號 | |
| aminoAcidChange |
0..* | string | 胺基酸變異(pHGVS) | |
| variantAllelicFrequency |
0..* | Quantity | 基因變異比例 | |
| dnaChangeType |
0..* | CodeableConcept | DNA變異類型 | |
| genomicRefSeqID |
0..* | string | 基因組參考序列 | |
| genomicDnaChange |
0..* | string | 基因組DNA變異 (gHGVS) | |
| proteinRefSeqID |
0..* | string | 蛋白質參考序列編號 | |
| aminoAcidChangeType |
0..* | CodeableConcept | 胺基酸變異類型 | |
| variantReadCount |
0..* | Quantity | 變異測序讀數 | |
| variantTotalReadCount |
0..* | Quantity | 變異區測序總讀數 | |
| geneFusions |
0..* | BackboneElement | 基因融合資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| fusedTargetGenAndPartner |
1..* | string | 基因融合 | |
| geneFusionVaf |
0..* | Quantity | 基因融合變異比例 | |
| copyNumberAlterations |
0..* | BackboneElement | 基因拷貝數變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| cnvGeneSymbol |
1..* | string | 拷貝數變異基因符號 | |
| cnvValue |
0..* | Quantity | 拷貝數變異數 | |
| cnvInterpret |
1..* | CodeableConcept | 拷貝數變異判讀 | |
| otherTypeVariant |
0..* | BackboneElement | 其他變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| otherTypeVarGeneSymbol |
1..* | string | 其他變異基因符號 | |
| otherTypeVarGeneEffect |
1..* | string | 其他變異影響 | |
| biomarker |
0..* | BackboneElement | 基因生物標記資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| msiScore |
0..1 | Quantity | 衛星不穩定性數值 | |
| msiInterpretation |
0..1 | CodeableConcept | 衛星不穩定性判讀 | |
| tumorMutationBurdon |
0..1 | Quantity | 腫瘤突變負荷數值 | |
| tmbInterpretation |
0..1 | CodeableConcept | 腫瘤突變負荷判讀 | |
| biomarkerTypeAndInterpret |
0..1 | string | 其他生物標記類型與判讀 | |
| Documentation for this format | ||||
Constraints
| Id | Grade | Path(s) | Description | Expression |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
This structure is derived from Base
Key Elements View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| ApplyModel |
0..* | Base | 申請(Apply)次世代基因定序檢測之資料模型 | |
| patient |
1..1 | BackboneElement | 病人資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| patientId |
0..1 | string | 病歷號 | |
| patientName |
0..1 | HumanName | 姓名 | |
| idCardNumber |
1..1 | string | 身分證字號 | |
| birthDate |
1..1 | date | 出生日期 | |
| gender |
1..1 | code | 病人性別 | |
| hospital |
1..1 | BackboneElement | 院所資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| caseSerialNumber |
1..1 | Identifier | 案件流水號 | |
| hospitalId |
1..1 | string | 醫事機構代碼 | |
| expenseDate |
1..1 | dateTime | 費用年月 | |
| applyType |
1..1 | CodeableConcept | 申報類別 | |
| applyDate |
1..1 | dateTime | 申報日期 | |
| caseCategory |
1..1 | CodeableConcept | 案件分類 | |
| apply |
1..1 | BackboneElement | 申請項目 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsGeneTestApplyNumber |
0..1 | Identifier | NGS檢測編號(VPN取號) | |
| medicOrderCode |
0..1 | CodeableConcept | 醫令代碼 | |
| ngsGeneTestDate |
0..* | dateTime | 基因檢測日期 | |
| ngsGeneTestMethod |
0..* | CodeableConcept | 基因檢測方法 | |
| diseaseCharacterization |
0..1 | BackboneElement | 疾病資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
| diagnosisDate |
1..1 | date | 診斷日期 | |
| diagnosisCurrentStatus |
0..* | code | 簡要病摘。連結院內HIS系統之簡要病摘，或填寫原基因定序檢測之申請理由。 | |
| documentReference |
0..1 | BackboneElement | 基因檢測報告檔案 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestReportFileType |
1..1 | code | 基因檢測報告檔案類型 | |
| geneTestReportFilePath |
1..1 | base64Binary | 基因檢測報告路徑 | |
| geneTestReportTitle |
1..1 | string | 基因檢測報告名稱 | |
| sequencingSample |
1..1 | BackboneElement | 檢體資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorSpecimenPatholNumber |
1..1 | Identifier | 檢體病理編號 | |
| tumorSpecimenCollectDate |
1..1 | dateTime | 檢體採集日期 | |
| tumorSpecimenCollectBodySite |
1..1 | CodeableConcept | 標本來源部位 | |
| tumorSpecimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| percentTumorCellularity |
0..1 | Quantity | 腫瘤細胞比例 | |
| geneTestInfo |
1..1 | BackboneElement | 基因檢測資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestLdtsID |
0..1 | code | 特管案號 | |
| geneTestName |
0..1 | string | 基因檢測名稱 | |
| geneTestLab |
0..1 | string | 基因檢測機構 | |
| testGeneList |
0..* | BackboneElement | 完整基因清單 | |
| testTargetGeneNumber |
0..1 | Quantity | 檢測目標基因個數 | |
| ngsInfo |
1..1 | BackboneElement | 定序儀資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsPlatforms |
1..1 | string | 定序儀平台名稱 | |
| sequencerModel |
1..1 | string | 定序儀型號 | |
| ngsLibraryPrepKit |
0..1 | string | 建庫試劑組廠牌 | |
| geneTestTotalReads |
1..1 | Quantity | 定序總讀數 | |
| geneTestMeanDepth |
0..1 | Quantity | 平均測序深度 | |
| refSeqAssemblyVersion |
1..1 | string | 人類參考基因組版本 | |
| percentMappedReads |
0..1 | Quantity | 對準成功率 | |
| ngsGeneTestResults |
1..* | BackboneElement | 基因檢測結果 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestFindings |
1..* | BackboneElement | 基因檢測評估資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorGeneVarAssessment |
1..1 | CodeableConcept | 腫瘤基因檢測數據判讀 | |
| geneTestClinicalAssessment |
0..1 | string | 基因臨床判讀結果 | |
| smallVariants |
0..* | BackboneElement | 短序列變異資料 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| transcriptDatabaseName |
0..* | string | 轉錄本參考資料庫名稱 | |
| transcriptDatabaseRelease |
0..* | string | 轉錄本參考資料庫版本 | |
| transcriptID |
0..* | string | 轉錄本參考序列 | |
| dnaChange |
0..* | string | DNA變異 (c.HGVS) | |
| variantGeneSymbol |
0..* | string | 變異基因符號 | |
| aminoAcidChange |
0..* | string | 胺基酸變異(pHGVS) | |
| variantAllelicFrequency |
0..* | Quantity | 基因變異比例 | |
| dnaChangeType |
0..* | CodeableConcept | DNA變異類型 | |
| genomicRefSeqID |
0..* | string | 基因組參考序列 | |
| genomicDnaChange |
0..* | string | 基因組DNA變異 (gHGVS) | |
| proteinRefSeqID |
0..* | string | 蛋白質參考序列編號 | |
| aminoAcidChangeType |
0..* | CodeableConcept | 胺基酸變異類型 | |
| variantReadCount |
0..* | Quantity | 變異測序讀數 | |
| variantTotalReadCount |
0..* | Quantity | 變異區測序總讀數 | |
| geneFusions |
0..* | BackboneElement | 基因融合資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| fusedTargetGenAndPartner |
1..* | string | 基因融合 | |
| geneFusionVaf |
0..* | Quantity | 基因融合變異比例 | |
| copyNumberAlterations |
0..* | BackboneElement | 基因拷貝數變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| cnvGeneSymbol |
1..* | string | 拷貝數變異基因符號 | |
| cnvValue |
0..* | Quantity | 拷貝數變異數 | |
| cnvInterpret |
1..* | CodeableConcept | 拷貝數變異判讀 | |
| otherTypeVariant |
0..* | BackboneElement | 其他變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| otherTypeVarGeneSymbol |
1..* | string | 其他變異基因符號 | |
| otherTypeVarGeneEffect |
1..* | string | 其他變異影響 | |
| biomarker |
0..* | BackboneElement | 基因生物標記資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| msiScore |
0..1 | Quantity | 衛星不穩定性數值 | |
| msiInterpretation |
0..1 | CodeableConcept | 衛星不穩定性判讀 | |
| tumorMutationBurdon |
0..1 | Quantity | 腫瘤突變負荷數值 | |
| tmbInterpretation |
0..1 | CodeableConcept | 腫瘤突變負荷判讀 | |
| biomarkerTypeAndInterpret |
0..1 | string | 其他生物標記類型與判讀 | |
| Documentation for this format | ||||
Constraints
| Id | Grade | Path(s) | Description | Expression |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
Differential View
This structure is derived from Base
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints Filter: |
|---|---|---|---|---|
| ApplyModel |
0..* | Base | 申請(Apply)次世代基因定序檢測之資料模型 | |
| patient |
1..1 | BackboneElement | 病人資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| patientId |
0..1 | string | 病歷號 | |
| patientName |
0..1 | HumanName | 姓名 | |
| idCardNumber |
1..1 | string | 身分證字號 | |
| birthDate |
1..1 | date | 出生日期 | |
| gender |
1..1 | code | 病人性別 | |
| hospital |
1..1 | BackboneElement | 院所資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| caseSerialNumber |
1..1 | Identifier | 案件流水號 | |
| hospitalId |
1..1 | string | 醫事機構代碼 | |
| expenseDate |
1..1 | dateTime | 費用年月 | |
| applyType |
1..1 | CodeableConcept | 申報類別 | |
| applyDate |
1..1 | dateTime | 申報日期 | |
| caseCategory |
1..1 | CodeableConcept | 案件分類 | |
| apply |
1..1 | BackboneElement | 申請項目 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsGeneTestApplyNumber |
0..1 | Identifier | NGS檢測編號(VPN取號) | |
| medicOrderCode |
0..1 | CodeableConcept | 醫令代碼 | |
| ngsGeneTestDate |
0..* | dateTime | 基因檢測日期 | |
| ngsGeneTestMethod |
0..* | CodeableConcept | 基因檢測方法 | |
| diseaseCharacterization |
0..1 | BackboneElement | 疾病資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
| diagnosisDate |
1..1 | date | 診斷日期 | |
| diagnosisCurrentStatus |
0..* | code | 簡要病摘。連結院內HIS系統之簡要病摘，或填寫原基因定序檢測之申請理由。 | |
| documentReference |
0..1 | BackboneElement | 基因檢測報告檔案 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestReportFileType |
1..1 | code | 基因檢測報告檔案類型 | |
| geneTestReportFilePath |
1..1 | base64Binary | 基因檢測報告路徑 | |
| geneTestReportTitle |
1..1 | string | 基因檢測報告名稱 | |
| sequencingSample |
1..1 | BackboneElement | 檢體資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorSpecimenPatholNumber |
1..1 | Identifier | 檢體病理編號 | |
| tumorSpecimenCollectDate |
1..1 | dateTime | 檢體採集日期 | |
| tumorSpecimenCollectBodySite |
1..1 | CodeableConcept | 標本來源部位 | |
| tumorSpecimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| percentTumorCellularity |
0..1 | Quantity | 腫瘤細胞比例 | |
| geneTestInfo |
1..1 | BackboneElement | 基因檢測資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestLdtsID |
0..1 | code | 特管案號 | |
| geneTestName |
0..1 | string | 基因檢測名稱 | |
| geneTestLab |
0..1 | string | 基因檢測機構 | |
| testGeneList |
0..* | BackboneElement | 完整基因清單 | |
| testTargetGeneNumber |
0..1 | Quantity | 檢測目標基因個數 | |
| ngsInfo |
1..1 | BackboneElement | 定序儀資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| ngsPlatforms |
1..1 | string | 定序儀平台名稱 | |
| sequencerModel |
1..1 | string | 定序儀型號 | |
| ngsLibraryPrepKit |
0..1 | string | 建庫試劑組廠牌 | |
| geneTestTotalReads |
1..1 | Quantity | 定序總讀數 | |
| geneTestMeanDepth |
0..1 | Quantity | 平均測序深度 | |
| refSeqAssemblyVersion |
1..1 | string | 人類參考基因組版本 | |
| percentMappedReads |
0..1 | Quantity | 對準成功率 | |
| ngsGeneTestResults |
1..* | BackboneElement | 基因檢測結果 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| geneTestFindings |
1..* | BackboneElement | 基因檢測評估資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| tumorGeneVarAssessment |
1..1 | CodeableConcept | 腫瘤基因檢測數據判讀 | |
| geneTestClinicalAssessment |
0..1 | string | 基因臨床判讀結果 | |
| smallVariants |
0..* | BackboneElement | 短序列變異資料 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| transcriptDatabaseName |
0..* | string | 轉錄本參考資料庫名稱 | |
| transcriptDatabaseRelease |
0..* | string | 轉錄本參考資料庫版本 | |
| transcriptID |
0..* | string | 轉錄本參考序列 | |
| dnaChange |
0..* | string | DNA變異 (c.HGVS) | |
| variantGeneSymbol |
0..* | string | 變異基因符號 | |
| aminoAcidChange |
0..* | string | 胺基酸變異(pHGVS) | |
| variantAllelicFrequency |
0..* | Quantity | 基因變異比例 | |
| dnaChangeType |
0..* | CodeableConcept | DNA變異類型 | |
| genomicRefSeqID |
0..* | string | 基因組參考序列 | |
| genomicDnaChange |
0..* | string | 基因組DNA變異 (gHGVS) | |
| proteinRefSeqID |
0..* | string | 蛋白質參考序列編號 | |
| aminoAcidChangeType |
0..* | CodeableConcept | 胺基酸變異類型 | |
| variantReadCount |
0..* | Quantity | 變異測序讀數 | |
| variantTotalReadCount |
0..* | Quantity | 變異區測序總讀數 | |
| geneFusions |
0..* | BackboneElement | 基因融合資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| fusedTargetGenAndPartner |
1..* | string | 基因融合 | |
| geneFusionVaf |
0..* | Quantity | 基因融合變異比例 | |
| copyNumberAlterations |
0..* | BackboneElement | 基因拷貝數變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| cnvGeneSymbol |
1..* | string | 拷貝數變異基因符號 | |
| cnvValue |
0..* | Quantity | 拷貝數變異數 | |
| cnvInterpret |
1..* | CodeableConcept | 拷貝數變異判讀 | |
| otherTypeVariant |
0..* | BackboneElement | 其他變異資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| otherTypeVarGeneSymbol |
1..* | string | 其他變異基因符號 | |
| otherTypeVarGeneEffect |
1..* | string | 其他變異影響 | |
| biomarker |
0..* | BackboneElement | 基因生物標記資訊 | |
| @id |
0..1 | string | Unique id for inter-element referencing | |
| extension |
0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |
| modifierExtension |
?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| msiScore |
0..1 | Quantity | 衛星不穩定性數值 | |
| msiInterpretation |
0..1 | CodeableConcept | 衛星不穩定性判讀 | |
| tumorMutationBurdon |
0..1 | Quantity | 腫瘤突變負荷數值 | |
| tmbInterpretation |
0..1 | CodeableConcept | 腫瘤突變負荷判讀 | |
| biomarkerTypeAndInterpret |
0..1 | string | 其他生物標記類型與判讀 | |
| Documentation for this format | ||||
Constraints
| Id | Grade | Path(s) | Description | Expression |
| ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children |
hasValue() or (children().count() > id.count())
|
| ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both |
extension.exists() != value.exists()
|
This structure is derived from Base