Artifacts Summary

臺灣次世代基因定序檢測實作指引
1.0.0 - STU1.0.0

This page is part of the 臺灣次世代基因定序檢測實作指引 (v1.0.0: STU1.0.0) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Contents:

Behavior: Capability Statements
Behavior: Search Parameters
Structures: Logical Models
Structures: Resource Profiles
Structures: Extension Definitions
Terminology: Value Sets
Terminology: Code Systems
Example: Example Instances

This page provides a list of the FHIR artifacts defined as part of this implementation guide.

Behavior: Capability Statements

The following artifacts define the specific capabilities that different types of systems are expected to have in order to comply with this implementation guide. Systems conforming to this implementation guide are expected to declare conformance to one or more of the following capability statements.

臺灣次世代基因定序檢測-伺服端(TWNGS Server)

臺灣次世代基因定序檢測實作指引(TWNGS IG)伺服端(Server)之能力聲明

臺灣次世代基因定序檢測-用戶端(TWNGS Client)

臺灣次世代基因定序檢測實作指引(TWNGS IG)用戶端(Client)之能力聲明

Behavior: Search Parameters

These define the properties by which a RESTful server can be searched. They can also be used for sorting and including related resources.

Bundle-id

次世代基因定序檢測(Bundle)的邏輯性ID

Structures: Logical Models

These define data models that represent the domain covered by this implementation guide in more business-friendly terms than the underlying FHIR resources.

申請(Apply)次世代基因定序檢測之資料模型

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。

Structures: Resource Profiles

These define constraints on FHIR resources for systems conforming to this implementation guide.

基因報告-DocumentReference TWNGS

此基因報告-DocumentReference TWNGS Profile說明本IG如何進一步定義臺灣核心-文件參照(TW Core DocumentReference) Profile以呈現次世代基因定序檢測之基因報告

基因定序檢測報告-DiagnosticReport TWNGS

此基因定序檢測報告-DiagnosticReport TWNGSS Profile說明本IG如何進一步定義FHIR的DiagnosticReport Resource以呈現健保次世代基因定序檢測報告

基因定序檢測報告之疾病資訊-Condition TWNGS

此基因定序檢測報告之疾病資訊-Condition TWNGSS Profile說明本IG如何進一步定義FHIR的Condition Resource以呈現健保次世代基因定序檢測報告之疾病資訊

基因定序檢測申請項目-ServiceRequest TWNGS

此基因定序檢測申請項目ServiceRequest TWNGS Profile說明本IG如何進一步定義臺灣核心-藥品請求(TW Core MedicationRequest) Profile以呈現次世代基因定序檢測中申請項目之基因定序檢測項目

基因定序檢測裝置-Device TWNGS

此基因定序檢測裝置-Device TWNGS Profile說明本IG如何進一步定義FHIR的Device Resource以呈現次世代基因定序檢測之健保次世代基因定序檢測裝置

基因定序檢測證明文件-Composition TWNGS

此基因定序檢測證明文件-Composition TWNGSS Profile說明本IG如何進一步定義FHIR的Condition Resource以呈現健保次世代基因定序檢測報告之證明文件

基因檢測機構-Organization Gene TWNGS

此基因檢測機構-Organization Gene TWNGS Profile說明本IG如何進一步定義臺灣核心-機構(TW Core Organization) Profile以呈現次世代基因定序檢測之基因檢測機構基本資料

基因檢測檢體-Specimen TWNGS

此基因檢測檢體-Specimen TWNGS Profile說明本IG如何進一步定義臺灣核心-檢體(TW Core Specimen) Profile以呈現次世代基因定序檢測中基因資訊之檢測檢體相關內容

基因資訊-Observation TWNGS

此基因資訊-Observation TWNGS Profile說明本IG如何進一步定義FHIR的Observation Resource以呈現次世代基因定序檢測之基因資訊

次世代基因定序檢測-Bundle TWNGS

次世代基因定序檢測-Bundle TWNGS Profile說明本IG如何進一步定義資料交換基本單位(TW Core Bundle) Profile以呈現次世代基因定序檢測之內容

病人資訊-Patient TWNGS

此病人資訊-Patient TWNGS Profile說明本IG如何進一步定義臺灣核心-病人(TW Core Patient) Profile以呈現次世代基因定序檢測之病人基本資料

系統回應訊息-Operationoutcome TWNGS

此系統回應訊息-Operationoutcome TWNGS Profile說明本IG如何進一步定義FHIR的Operationoutcome Resource，以呈現系統回應訊息之資料

醫事機構-Organization TWNGS

此醫事機構-Organization TWNGS Profile說明本IG如何進一步定義臺灣核心-機構(TW Core Organization) Profile以呈現次世代基因定序檢測之醫事機構基本資料

Structures: Extension Definitions

These define constraints on FHIR data types for systems conforming to this implementation guide.

DiagnosticReportcondition

疾病資訊

Terminology: Value Sets

These define sets of codes used by systems conforming to this implementation guide.

HUGO Gene Nomenclature Committee Gene Names (HGNC)

This value set includes all HGNC Codes, which includes multiple code systems. In this guide, Gene IDs from HGNC are used as CodeableConcepts, which must be sent with the HGNC gene ID including the prefix ‘HGNC:’ as the code and the HGNC ‘gene symbol’ as display. CAUTION: HGNC also indexes gene groups by numeric ID (without a prefix), and older systems may send HGNC gene IDs without the prefix, so care must be taken to confirm alignment. We have separately included the genegroup code system to draw attention to this ambiguity and potential error.

LOINC-健保NGS-基因檢測代碼值集

LOINC-健保NGS-基因檢測檢體類型值集

LOINC-健保NGS-基因突變類型值集

NHI-健保NGS-NGS檢驗給付項目值集

NHI-健保NGS-案件分類

臺灣衛生福利部中央健康保險署「案件分類」值集，值集出版日期：2024-07-26；資料所屬單位：臺灣衛生福利部中央健康保險署。 因原始資料無值集版本資訊，故使用其「生效日期」作為版本資訊。

NHI-健保NGS-申報類別值集

NHI-健保NGS-系統回應訊息值集

NHI-系統回應訊息值集

NHI-特約醫事機構值集

NHI-特約醫事機構值集，參照至衛福部健保署特約醫事機構代碼網路查詢服務中的健保特約醫療院所名冊代碼出版日期：2025-04-30；資料所屬單位：衛生福利部中央健康保險署。 因原始資料無代碼版本資訊，故使用其「更新日期」作為版本資訊。