RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: DNA Change Type Value Set

Official URL: https://rarelink.bih-charite.de/fhir/ValueSet/dna-change-type-vs Version: 2.0.0
Draft as of 2025-06-03 Computable Name: DNAChangeTypeVS

LOINC LA codes enumerating various DNA change types.

References

Logical Definition (CLD)

 

Expansion

Expansion from tx.fhir.org based on Loinc v2.80

This value set contains 7 concepts

CodeSystemDisplay (en-US)
  LA9658-1http://loinc.orgWild type
  LA6692-3http://loinc.orgDeletion
  LA6686-5http://loinc.orgDuplication
  LA6687-3http://loinc.orgInsertion
  LA6688-1http://loinc.orgInsertion/Deletion
  LA6689-9http://loinc.orgInversion
  LA6690-7http://loinc.orgSubstitution

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