專門術語

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

值集(Value Sets)
代碼系統(Code Systems)

這頁列出TWNGS IG必須及可能需要使用的所有專門術語(terminology)

值集(Value Sets)

LOINC-健保NGS-基因突變類型值集

LOINC-健保NGS-基因檢測代碼值集

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.

NHI-健保NGS-申報類別值集

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-NGS檢驗給付項目值集

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。

LOINC-健保NGS-基因檢測檢體類型值集