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

ValueSet: 胺基酸變異類型值集

Official URL: http://example.org/ValueSet/amino-acid-change-type-vs Version: 0.1.0
Active as of 2026-03-20 Computable Name: AminoAcidChangeTypeVS

胺基酸變異類型值集

References

Logical Definition (CLD)

 

Expansion

Expansion from tx.fhir.org based on Loinc v2.81

This value set contains 11 concepts

SystemCodeDisplay (en)JSONXML
http://loinc.org  LA9658-1Wild type
http://loinc.org  LA6692-3Deletion
http://loinc.org  LA6686-5Duplication
http://loinc.org  LA6694-9Frameshift
http://loinc.org  LA6695-6Initiating Methionine
http://loinc.org  LA6687-3Insertion
http://loinc.org  LA9659-9Insertion and Deletion
http://loinc.org  LA6698-0Missense
http://loinc.org  LA6699-8Nonsense
http://loinc.org  LA6700-4Silent
http://loinc.org  LA6701-2Stop Codon Mutation

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