HLA Reporting Implementation Guide
0.0.1 - Draft

This page is part of the HLA Reporting Implementation Guide (v0.0.1: Trial Use: 1) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Artifacts Summary

This page provides a list of the FHIR artifacts defined as part of this implementation guide.

Structures: Resource Profiles

These define constraints on FHIR resources that need to be complied with by conformant implementations

HLA Genotype Observation HLA Genotype profile of genotype observation
HLA Molecular Sequence HLA profile of MolecularSequence resource
HLA Summary Report HLA Summary Report profile of genomics report
HLA Allele Observation HLA Allele profile of haplotype observation

Structures: Extension Definitions

These define constraints on FHIR data types that need to be complied with by conformant implementations

HLA Genotype Summary Summary genotype of HLA in GL String Code

Terminology: Value Sets

These define sets of codes used by systems conforming with this implementation guide

HLA Gene Name Value Set HLA HGNC GeneIds Valueset

Terminology: Code Systems

These define new code systems used by systems conforming with this implementation guide

Genotype List String Code CodeSystem Genotype List String Codesystem used for HLA reporting
HLA HGNC GeneID CodeSystem CodeSystem of HLA gene group subset of HGNC GeneId Codesystem

Example: Example Instances

These are example instances that show what data produced and consumed by systems conforming with this implementation guide might look like

HLA-A*01:01:01:01 Allele Example Example of HLA-A allele HLA-A*01:01:01:01 using IMGT/HLA 3.25 nomenclature
HLA-A*01:02 Allele Example Example of HLA-A allele HLA-A*01:02 using IMGT/HLA 3.25 nomenclature
HLA-A Genotype Example (HLA-A*01:01:01:01+HLA-A*01:02) Example of HLA-A genotyping using IMGT/HLA 3.25 nomenclature
HLA-A*01:01:01:01 Sequence Example 1 Example of HLA-A*01:01:01:01 sequence
HLA-A*01:02 Sequence Example Example of HLA-A*01:02 sequence
HLA-A, HLA-B Summary Report Example Example of HLA summary report
HLA-B*57:01:01:01 Allele Example Example of HLA-B*57:01:01:01 allele using IMGT/HLA 3.25 nomenclature
HLA-B*15:01:01:01 Allele Example Example of HLA-B*15:01:01:01 allele using IMGT/HLA 3.25 nomenclature
HLA-B Genotype Example (HLA-B*57:01:01:01+HLA-B*15:01:01:01) Example of HLA-B genotyping using IMGT/HLA 3.25 nomenclature
HLA-B*57:01:01:01 Sequence Example 1 Example of HLA-B*57:01:01:01 sequence
HLA-B*15:01:01:01 Sequence Example 2 Example of HLA-B*15:01:01:01 sequence