HL7 Czech DIGOVO Implementation Guide
0.0.1 - ci-build Czechia flag

HL7 Czech DIGOVO Implementation Guide, published by HL7 Czech Republic. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7-cz/DIGOVO/ and changes regularly. See the Directory of published versions

ValueSet: HGVS kódování genetických variant (DIGOVO)

Official URL: https://hl7.cz/fhir/DIGOVO/ValueSet/vs-hgvs-code-cz Version: 0.0.1
Active as of 2025-11-08 Computable Name: VsHgvsCodeCz

Soubor kódů pro popis genetických variant dle standardu HGVS (Human Genome Variation Society). Používá se v rámci profilu CZ_Observation_Genotype jako hodnota (valueCodeableConcept). Hodnoty odpovídají záznamům genetických variant, např. c.76A>T, p.Glu6Val. Zdrojem dat jsou HGVS zápisy, OMIM, ClinVar nebo interní registr variant.

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

This value set includes codes based on the following rules:

  • Include all codes defined in http://varnomen.hgvs.org version Not Stated (use latest from terminology server)
  • Include all codes defined in https://www.ncbi.nlm.nih.gov/clinvar version Not Stated (use latest from terminology server)
  • Include all codes defined in https://www.omim.org version Not Stated (use latest from terminology server)

 

Expansion

No Expansion for this valueset (not supported by Publication Tooling)

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