MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Home

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/ImplementationGuide/mii-ig-molgen Version: 2027.0.0-ballot.1
Active as of 2026-09-16 Computable Name: MII_IG_MolGen

Introduction

This specification describes the FHIR representation of the Core Dataset (CDS) module Molekulargenetischer Befundbericht of the Medical Informatics Initiative (MII). It covers the module's use cases and the associated FHIR profiles, extensions and terminology resources in their normative form. The MII Core Dataset enables the standardized secondary use of routine clinical data for medical research.

Publication  
Date 2026-09-16
Version 2027.0.0-ballot.1
Status active
Realm DE

Target audience

Implementers

Data Integration Centers (DIC), software developers and system architects building FHIR-based solutions.
→ see Profiles and Logical Models.

Researchers

Scientists using KDS data for medical research.
→ see Guidance.

Contents

  • Guidance — getting started and domain notes.
  • Conformance — the KDS-wide conformance rules (requirements language, Must Support, handling missing data) are maintained centrally by the Meta module; the module-specific Security and Privacy considerations are part of this guide.
  • Profiles and the further artifact pages — the technical artifacts.
  • Examples — example instances.
  • Dependencies — the ImplementationGuide resource with the dependency table, cross-version analysis and copyright statements.

This module is part of the MII Core Dataset; the other KDS modules and their dependencies are described at medizininformatik-initiative.de. How this module relates to the other MII modules is described in the Guidance for Implementers.

This guide builds on the following packages. The table is taken from dependencies: in sushi-config.yaml, so it cannot drift from what the build actually resolves:

Package Version What it provides
hl7.fhir.uv.genomics-reporting 3.0.0 HL7 Clinical Genomics Reporting STU3 — the international base every genetic profile here derives from
de.medizininformatikinitiative.kerndatensatz.meta 2027.0.0-ballot MII core dataset Meta module — provenance and the shared search parameters
de.basisprofil.r4 1.6.0 German base profiles — identifiers, addresses, coverage
de.medizininformatikinitiative.kerndatensatz.base 2027.0.0-ballot MII core dataset Base module — Patient, Encounter and the cross-module foundations
de.medizininformatikinitiative.kerndatensatz.biobank 2027.0.0-ballot MII core dataset Biobank module — the Specimen profiles the genomic studies reference
hl7.terminology.r4 7.3.0 HL7 Terminology — the code systems the FHIR core specification relies on
hl7.fhir.uv.crmi 2.0.0 Canonical Resource Management Infrastructure — declares how this guide versions its artifacts
hl7.fhir.uv.extensions.r4 5.3.0 HL7 extension pack

More FHIR implementation guides can be found in the official FHIR IG Registry (source: FHIR/ig-registry).

Acknowledgements

Twelve of this module's twenty-one profiles derive directly from HL7 Clinical Genomics Reporting STU3 — Variante, Genotyp, Molekulare Konsequenz, Molekularer Biomarker, both implication profiles, GenomicStudy and GenomicStudyAnalysis, and the report itself. The domain model behind them, the component structure, the terminology bindings and the naming are the work of the HL7 Clinical Genomics Working Group. This module constrains, names in German and adds the MII context; it does not reinvent the modelling.

That bears on the author statement in the artifact metadata, too. The artifacts of this module carry CRMI metadata, artifact-author among it. That statement refers to the MII-specific constraint, not to the underlying model. Clinical Genomics Reporting carries no CRMI metadata of its own; the annotation here neither replaces nor claims authorship of it.

Imprint

This guide was created within the Medical Informatics Initiative and is subject, by its governance process, to the coordination procedure of the Interoperability Forum and the technical committees of HL7 Germany.

Contact

Questions about this publication can be asked on the HL7 FHIR Zulip chat.fhir.org in the german/mi-initiative stream, or on the MII Zulip mii.zulipchat.com in the MII-Kerndatensatz stream. Comments and issues are welcome as Issues on GitHub.

Contacts for the domain content of this module:

  • Sylvia Thun, Berlin Institute of Health at Charité (BIH)
  • Thomas Debertshäuser, Berlin Institute of Health at Charité (BIH)
  • Julian Saß, Berlin Institute of Health at Charité (BIH)
  • Karoline Buckow, TMF – Technologie- und Methodenplattform für die vernetzte medizinische Forschung e.V.
  • Franziska Klepka, TMF – Technologie- und Methodenplattform für die vernetzte medizinische Forschung e.V.

Authors (in alphabetical order)

  • Alexander Zautke (HL7 Deutschland)
  • Andrew Heidel (SMITH)
  • Anna Trelinska-Finger (HiGHmed)
  • Arsenij Ustjanzew (MIRACUM)
  • Bernd Auber (HiGHmed)
  • Brigitte Schlegelberger (HiGHmed)
  • Caroline Stellmach (BIH at Charité)
  • Franziska Klepka (MII-Koordinationsstelle)
  • Frederick Klauschen (Charité)
  • Julian Saß (BIH at Charité)
  • Karoline Buckow (MII-Koordinationsstelle)
  • Kirsten Toralf (SMITH)
  • Manuela Benary (Charité)
  • Martin Boeker (DIFUTURE)
  • Michael Krawczak (HiGHmed)
  • Oliver Kohlbacher (DIFUTURE)
  • Patrick Werner (MOLIT Institut gGmbH)
  • Simon Schumacher (HiGHmed)
  • Sylvia Thun (Charité)
  • Stefan Fröhling (GenomDE)
  • Stephan Ossowski (DIFUTURE)
  • Thomas Debertshäuser (BIH at Charité)
  • Thomas Wienker (GenomDE)
  • Yvonne Möller (GenomDE)

Copyright © 2022+: TMF e. V., Charlottenstraße 42, 10117 Berlin

This work is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0).

For the usage rights of the underlying FHIR technology, see the FHIR base specification.

Some of the code systems used are published and maintained by other organizations; the copyright of the respective publishers applies.

Disclaimer

The content of this document is public. Please note that parts of this document are based on FHIR version R4, which is copyrighted by HL7 International.

Although this publication was prepared with the greatest care, the authors cannot accept any liability for direct or indirect damage that may arise from the content of this specification.