臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build
臺灣次世代基因定序檢測實作指引
1.0.1 - ci-build
臺灣次世代基因定序檢測實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 1.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/ngs/ and changes regularly. See the Directory of published versions
| Official URL: https://nhicore.nhi.gov.tw/ngs/StructureDefinition/ApplyModel | Version: 1.0.1 | |||
| Active as of 2026-10-14 | Computable Name: ApplyModel | |||
申請(Apply)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」 瞭解各資料欄位實際使用本IG的哪個Profiles的哪個資料項目（element）。亦可配合 [視覺化邏輯模型圖]進行欄位對應。
Usages:
You can also check for usages in the FHIR IG Statistics
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 | |
  diagnosis |
1..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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| diagDate |
1..1 | date | 診斷日期 | |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
 diagCurrentStatus |
1..1 | 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。 | |
| gene |
1..1 | BackboneElement | 基因資訊 | |
| @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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| genTestCode |
1..* | CodeableConcept | 基因檢測代碼 | |
| specimePathNo |
1..1 | Identifier | 檢體病理編號 | |
| specimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| genOrg |
1..1 | string | 基因檢測機構 | |
| mutationType |
1..1 | CodeableConcept | 基因突變類型 | |
| genResult |
1..1 | CodeableConcept | 基因檢測分析結果 | |
| genInterpretation |
1..* | CodeableConcept | 基因臨床判讀結果 | |
| reportResultString |
1..1 | string | 報告結果 - MIMEType | |
| genPdf |
1..1 | base64Binary | 基因報告（檔案路徑） | |
| genPdfTitle |
1..1 | string | 基因報告名稱 | |
| genTesList |
1..* | BackboneElement | 檢測基因列表 | |
| seqNam |
1..1 | BackboneElement | 定序儀名稱 | |
| seqModel |
1..1 | string | 定序儀型號 | |
| hosp |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| hospId |
1..1 | string | 醫事機構代碼 | |
| expDate |
1..1 | dateTime | 費用年月 | |
| applType |
1..1 | CodeableConcept | 申報類別 | |
| decDate |
1..1 | dateTime | 申報日期 | |
| casCatgory |
1..1 | CodeableConcept | 案件分類 | |
| srialNum |
1..1 | Identifier | 流水號 | |
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| mdicOrdr |
1..1 | CodeableConcept | 醫令代碼 | |
| ngsTesNum |
1..1 | Identifier | NGS檢測編號(VPN取號) | |
| genMethod |
1..1 | CodeableConcept | 基因檢測方法 | |
| genDate |
1..1 | dateTime | 基因檢測日期 | |
 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| patId |
0..1 | string | 病歷號 | |
| idCard |
1..1 | string | 身分證字號 | |
| name |
1..1 | HumanName | 姓名 | |
| gender |
1..1 | code | 病人性別 | |
| birthday |
1..1 | date | 出生日期 | |
| Documentation for this format | ||||
| 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 | |
| diagnosis |
1..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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| diagDate |
1..1 | date | 診斷日期 | |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
| diagCurrentStatus |
1..1 | 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。 | |
| gene |
1..1 | BackboneElement | 基因資訊 | |
| @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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| genTestCode |
1..* | CodeableConcept | 基因檢測代碼 | |
| specimePathNo |
1..1 | Identifier | 檢體病理編號 | |
| specimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| genOrg |
1..1 | string | 基因檢測機構 | |
| mutationType |
1..1 | CodeableConcept | 基因突變類型 | |
| genResult |
1..1 | CodeableConcept | 基因檢測分析結果 | |
| genInterpretation |
1..* | CodeableConcept | 基因臨床判讀結果 | |
| reportResultString |
1..1 | string | 報告結果 - MIMEType | |
| genPdf |
1..1 | base64Binary | 基因報告（檔案路徑） | |
| genPdfTitle |
1..1 | string | 基因報告名稱 | |
| genTesList |
1..* | BackboneElement | 檢測基因列表 | |
| seqNam |
1..1 | BackboneElement | 定序儀名稱 | |
| seqModel |
1..1 | string | 定序儀型號 | |
| hosp |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| hospId |
1..1 | string | 醫事機構代碼 | |
| expDate |
1..1 | dateTime | 費用年月 | |
| applType |
1..1 | CodeableConcept | 申報類別 | |
| decDate |
1..1 | dateTime | 申報日期 | |
| casCatgory |
1..1 | CodeableConcept | 案件分類 | |
| srialNum |
1..1 | Identifier | 流水號 | |
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| mdicOrdr |
1..1 | CodeableConcept | 醫令代碼 | |
| ngsTesNum |
1..1 | Identifier | NGS檢測編號(VPN取號) | |
| genMethod |
1..1 | CodeableConcept | 基因檢測方法 | |
| genDate |
1..1 | dateTime | 基因檢測日期 | |
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| patId |
0..1 | string | 病歷號 | |
| idCard |
1..1 | string | 身分證字號 | |
| name |
1..1 | HumanName | 姓名 | |
| gender |
1..1 | code | 病人性別 | |
| birthday |
1..1 | date | 出生日期 | |
| Documentation for this format | ||||
| 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 | |
| diagnosis |
1..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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| diagDate |
1..1 | date | 診斷日期 | |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
| diagCurrentStatus |
1..1 | 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。 | |
| gene |
1..1 | BackboneElement | 基因資訊 | |
| @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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| genTestCode |
1..* | CodeableConcept | 基因檢測代碼 | |
| specimePathNo |
1..1 | Identifier | 檢體病理編號 | |
| specimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| genOrg |
1..1 | string | 基因檢測機構 | |
| mutationType |
1..1 | CodeableConcept | 基因突變類型 | |
| genResult |
1..1 | CodeableConcept | 基因檢測分析結果 | |
| genInterpretation |
1..* | CodeableConcept | 基因臨床判讀結果 | |
| reportResultString |
1..1 | string | 報告結果 - MIMEType | |
| genPdf |
1..1 | base64Binary | 基因報告（檔案路徑） | |
| genPdfTitle |
1..1 | string | 基因報告名稱 | |
| genTesList |
1..* | BackboneElement | 檢測基因列表 | |
| seqNam |
1..1 | BackboneElement | 定序儀名稱 | |
| seqModel |
1..1 | string | 定序儀型號 | |
| hosp |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| hospId |
1..1 | string | 醫事機構代碼 | |
| expDate |
1..1 | dateTime | 費用年月 | |
| applType |
1..1 | CodeableConcept | 申報類別 | |
| decDate |
1..1 | dateTime | 申報日期 | |
| casCatgory |
1..1 | CodeableConcept | 案件分類 | |
| srialNum |
1..1 | Identifier | 流水號 | |
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| mdicOrdr |
1..1 | CodeableConcept | 醫令代碼 | |
| ngsTesNum |
1..1 | Identifier | NGS檢測編號(VPN取號) | |
| genMethod |
1..1 | CodeableConcept | 基因檢測方法 | |
| genDate |
1..1 | dateTime | 基因檢測日期 | |
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| patId |
0..1 | string | 病歷號 | |
| idCard |
1..1 | string | 身分證字號 | |
| name |
1..1 | HumanName | 姓名 | |
| gender |
1..1 | code | 病人性別 | |
| birthday |
1..1 | date | 出生日期 | |
| Documentation for this format | ||||
| 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 | |
| diagnosis |
1..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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| diagDate |
1..1 | date | 診斷日期 | |
| icd10cmCode |
1..1 | code | 國際疾病分類代碼 (sequence=1)，共病症 (sequence>=2) | |
| diagCurrentStatus |
1..1 | 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。 | |
| gene |
1..1 | BackboneElement | 基因資訊 | |
| @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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| genTestCode |
1..* | CodeableConcept | 基因檢測代碼 | |
| specimePathNo |
1..1 | Identifier | 檢體病理編號 | |
| specimenType |
1..1 | CodeableConcept | 基因檢測檢體類型 | |
| genOrg |
1..1 | string | 基因檢測機構 | |
| mutationType |
1..1 | CodeableConcept | 基因突變類型 | |
| genResult |
1..1 | CodeableConcept | 基因檢測分析結果 | |
| genInterpretation |
1..* | CodeableConcept | 基因臨床判讀結果 | |
| reportResultString |
1..1 | string | 報告結果 - MIMEType | |
| genPdf |
1..1 | base64Binary | 基因報告（檔案路徑） | |
| genPdfTitle |
1..1 | string | 基因報告名稱 | |
| genTesList |
1..* | BackboneElement | 檢測基因列表 | |
| seqNam |
1..1 | BackboneElement | 定序儀名稱 | |
| seqModel |
1..1 | string | 定序儀型號 | |
| hosp |
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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| hospId |
1..1 | string | 醫事機構代碼 | |
| expDate |
1..1 | dateTime | 費用年月 | |
| applType |
1..1 | CodeableConcept | 申報類別 | |
| decDate |
1..1 | dateTime | 申報日期 | |
| casCatgory |
1..1 | CodeableConcept | 案件分類 | |
| srialNum |
1..1 | Identifier | 流水號 | |
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| mdicOrdr |
1..1 | CodeableConcept | 醫令代碼 | |
| ngsTesNum |
1..1 | Identifier | NGS檢測編號(VPN取號) | |
| genMethod |
1..1 | CodeableConcept | 基因檢測方法 | |
| genDate |
1..1 | dateTime | 基因檢測日期 | |
| 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 |
0..* | Extension | Extensions that cannot be ignored even if unrecognized | |
| patId |
0..1 | string | 病歷號 | |
| idCard |
1..1 | string | 身分證字號 | |
| name |
1..1 | HumanName | 姓名 | |
| gender |
1..1 | code | 病人性別 | |
| birthday |
1..1 | date | 出生日期 | |
| Documentation for this format | ||||
| 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