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/reference-genome-vs | Version: 2.0.0 | |||
| Draft as of 2025-05-12 | Computable Name: ReferenceGenomeVS | |||
LOINC LA codes specifying the reference genome build.
References
ValueSet
Expansion from tx.fhir.org based on Loinc v2.80
This value set contains 5 concepts
| Code | System | Display (en-US) |
| LA14032-9 | http://loinc.org | NCBI Build 34 |
| LA14029-5 | http://loinc.org | GRCh37 |
| LA14030-3 | http://loinc.org | NCBI Build 36.1 |
| LA14031-1 | http://loinc.org | NCBI Build 35 |
| LA26806-2 | http://loinc.org | GRCh38 |
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 |