臺灣健保署基礎實作指引
0.0.1 - ci-build

臺灣健保署基礎實作指引, 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 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/base/ and changes regularly. See the Directory of published versions

## ValueSet: LOINC-健保署-基因突變類型值集

Official URL: https://nhicore.nhi.gov.tw/base/ValueSet/dna-change-type | Version: 0.0.1
Draft as of 2025-10-01 | Computable Name: DNAChangeType

LOINC-健保署-基因突變類型值集

References

- 基因資訊-Observation Diagnostic TWNHIBASE

### Logical Definition (CLD)

This value set includes codes based on the following rules:

- Include these codes as defined in `http://loinc.org` version Not Stated (use latest from terminology server)

  Code | Display
  LA6692-3 | Deletion
  LA6686-5 | Duplication
  LA6687-3 | Insertion
  LA6688-1 | Insertion/Deletion
  LA6689-9 | Inversion
  LA6690-7 | Substitution
  101397-8 | Copy number variation analysis Sequencing Doc (Bld/Tiss)
  81695-9 | MSI Ca spec-Imp
  94077-5 | TMB Tumor-Imp
  LA11883-8 | Not detected

- Include these codes as defined in `https://nhicore.nhi.gov.tw/base/CodeSystem/inca-osiris` version 📦0.0.1

  Code | Display
  O55-2 | Delins

### Expansion

Expansion from tx.fhir.org based on:

- Loinc v2.81
- codesystem INCa-健保署-基因突變類型 v0.0.1 (CodeSystem)

This value set contains 11 concepts

System | Code | Display (en) | Definition | JSON | XML
`http://loinc.org` | LA6692-3 | Deletion |  |  |
`http://loinc.org` | LA6686-5 | Duplication |  |  |
`http://loinc.org` | LA6687-3 | Insertion |  |  |
`http://loinc.org` | LA6688-1 | Insertion/Deletion |  |  |
`http://loinc.org` | LA6689-9 | Inversion |  |  |
`http://loinc.org` | LA6690-7 | Substitution |  |  |
`http://loinc.org` | 101397-8 | Copy number variation analysis in Blood or Tissue by Sequencing |  |  |
`http://loinc.org` | 81695-9 | Microsatellite instability [Interpretation] in Cancer specimen Qualitative |  |  |
`http://loinc.org` | 94077-5 | Tumor mutation burden [Interpretation] |  |  |
`http://loinc.org` | LA11883-8 | Not detected |  |  |
`https://nhicore.nhi.gov.tw/base/CodeSystem/inca-osiris` | O55-2 | Delins |  |  |

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