臺灣次世代基因定序檢測實作指引
0.1.0 - ci-build
臺灣次世代基因定序檢測實作指引 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Official URL: http://example.org/ValueSet/dna-variantType-vs | Version: 0.1.0 | |||
| Active as of 2026-03-20 | Computable Name: DNAVariantTypeVS | |||
定義DNA序列變異類型，包含SNV、Indel及結構變異類型
References
Expansion from tx.fhir.org based on Loinc v2.82
This value set contains 7 concepts
| System | Code | Display (en) | JSON | XML |
http://loinc.org | LA9658-1 | Wild type | ||
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 |
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 |