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/ValueSet/dna-change-type | Version: 1.0.1 | |||
| Active as of 2025-04-30 | Computable Name: DNAChangeType | |||
LOINC-健保NGS-基因突變類型值集
References
Expansion from tx.fhir.org based on Loinc v2.81
This value set contains 6 concepts
| Code | System | Display |
| LA6692-3 | http://loinc.org | Deletion |
| LA6686-5 | http://loinc.org | Duplication |
| LA6687-3 | http://loinc.org | Insertion |
| LA6688-1 | http://loinc.org | Insertion/Deletion |
| LA6689-9 | http://loinc.org | Inversion |
| LA6690-7 | http://loinc.org | Substitution |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |