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
| Official URL: https://rarelink.bih-charite.de/fhir/ValueSet/dna-change-type-vs | Version: 2.0.0 | |||
| Draft as of 2025-12-15 | Computable Name: DNAChangeTypeVS | |||
LOINC LA codes enumerating various DNA change types.
References
Expansion from tx.fhir.org based on Loinc v2.80
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 |