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: Reference Genome Value Set

Official URL: https://rarelink.bih-charite.de/fhir/ValueSet/reference-genome-vs Version: 2.0.0
Draft as of 2025-12-15 Computable Name: ReferenceGenomeVS

LOINC LA codes specifying the reference genome build.

References

Logical Definition (CLD)

 

Expansion

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

This value set contains 5 concepts

SystemCodeDisplay (en)JSONXML
http://loinc.org  LA14032-9NCBI Build 34
http://loinc.org  LA14029-5GRCh37
http://loinc.org  LA14030-3NCBI Build 36.1
http://loinc.org  LA14031-1NCBI Build 35
http://loinc.org  LA26806-2GRCh38

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