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. For a full list of available versions, see the Directory of published versions

Search Parameters

Search Parameters

This page lists the search parameters implementers can rely on for the Molekulargenetischer Befundbericht module. It has two parts: the parameters this module defines itself, each explained below, and the complete set a conformant server must support, which the CapabilityStatement declares.

Both parts are derived from the built artifacts, not maintained by hand — the CapabilityStatement and the SearchParameter resources are the normative source.

Search parameters defined by this module

Clinical Genomics STU3 carries several data elements in extensions rather than in the base resource. The FHIR base search parameters cannot see into an extension, so these six elements would be unsearchable without a parameter of their own. Each one below names the element it reaches, the reason the base parameters do not, and a worked query.

In the examples, [base] is the server's FHIR base URL.

genomic-study — from a report back to the study that produced it

Finds the reports produced by a given genomic study. DiagnosticReport.result points at the observations; the study itself hangs off the report in the genomic-study-reference extension, which no base parameter reaches.

GET [base]/DiagnosticReport?genomic-study=Procedure/mii-exa-molgen-genomic-study-tso500

recommended-action — reports carrying a given follow-up recommendation

Finds the reports that recommend a particular follow-up action — a confirmatory test, a family investigation, a therapy recommendation. The action is a Task referenced from the recommended-action extension, so it is not reachable through DiagnosticReport.result.

GET [base]/DiagnosticReport?recommended-action=Task/mii-exa-molgen-folgemassnahme-1

regions-studied — telling "not found" apart from "not looked for"

The one parameter here with clinical consequence rather than convenience. A report that does not mention a variant in BRCA1 means nothing until you know whether BRCA1 was examined at all. The examined regions sit in the studied sub-extension of genomic-study-analysis-regions; this parameter is what lets a query establish coverage.

GET [base]/Procedure?regions-studied=http://www.genenames.org/geneId|HGNC:1100

method-type — analyses by the method applied

Finds analyses by the sequencing or genotyping method used — sequencing, DNA hybridization, computational analysis. The method determines what the analysis can and cannot detect, which is why it is searchable in its own right. It sits in the genomic-study-analysis-method-type extension; Procedure.code carries the procedure, not the method.

GET [base]/Procedure?method-type=http://loinc.org|LA26398-0

specimen — analyses performed on a given specimen

Finds the analyses run on a particular specimen, for example to see everything derived from one tumour block. Procedure has no base specimen search parameter at all in R4; the reference sits in the genomic-study-analysis-specimen extension.

GET [base]/Procedure?specimen=Specimen/mii-exa-molgen-specimen-ffpe-tumor

device — analyses run on a given instrument

Finds the analyses produced by a particular sequencer or analytical device. This is the trace back to the instrument, which matters when a platform is recalled, recalibrated or found to misbehave on a class of variants. The device sits in the genomic-study-analysis-device extension.

GET [base]/Procedure?device=Device/mii-exa-molgen-device-tso500-lot

Search parameters a conformant server must support

The CapabilityStatement MII_CPS_MolGen_CapabilityStatement declares 110 search parameters across 7 resource types — the 6 above and 104 taken from the FHIR base specification. _id, _lastUpdated and _profile are required on every resource type so that instances can be retrieved by identity, by modification time and by the profile they claim.

Procedure.code distinguishes a GenomicStudy from a GenomicStudyAnalysis — both are Procedure, and without the code they cannot be told apart server-side.

For the expectation attached to each entry (SHALL / SHOULD / MAY) and for the supported interactions, read the CapabilityStatement itself — it carries them per parameter, and this page does not repeat them.