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

Resource Profile: MII PR MolGen Genomic Study

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-genomic-study Version: 2027.0.0-ballot.1
Active as of 2026-09-13 Computable Name: MII_PR_MolGen_GenomicStudy

Genomic Study ist ein Profil, dass die Durchführung von übergeorndenten molekulargenetischen Untersuchungen (Studies) beschreibt. Einzelne Assays werden dann als GenomicStudyAnalysis abgebildet. Es ist vom GenomicStudy-Profils aus dem Genomics Reporting IG abgeleitet .

Description

This profile describes a Genomic Study as a Procedure resource for documenting the genomic investigation that was carried out. It replaces the deprecated UntersuchteRegion profile and follows the requirements of Clinical Genomics Reporting STU3.

GenomicStudy is used to record the metadata about the genomic analysis carried out, including the methods used, the regions investigated and the devices involved.

The profile is derived from the profile GenomicStudy of the HL7 Genomics Reporting Implementation Guide STU3.

Profile

Must Support elements

FHIR element Meaning Logical data set
Procedure.status Status of the genetic study (e.g. completed, cancelled) Weiteres.Berichtstatus
Procedure.code Type of genomic investigation Methoden.Untersuchungsart
Procedure.subject Patient/subject of the investigation Probeninformation.Patient
Procedure.encounter Encounter context of the investigation Probeninformation.Fall
Procedure.performed[x] Point in time or period of performance Methoden.Durchführungsdatum
Procedure.reasonReference Request/indication for the genetic investigation Anforderung.ServiceRequest
Procedure.extension:genomic-study-analysis References to the individual GenomicStudyAnalysis resources Methoden.Analyseschritte

Examples

Example 1: GenomicStudy for panel sequencing

Examples

Written by the migration, not carried from the source. The Simplifier guide rendered these examples inline on this page; the IG Publisher renders each one on its own page instead, so they are listed here as links, in the order the source had them and with the captions it gave them. Nothing was added or dropped.

Usages:

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots, and their representations.

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudy An action that is being or was performed on a patient
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:genomic-study-analysis S 0..* Reference(Genomic Study Analysis) Durchgeführte Analysen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext
.... extension:referrer 0..1 Reference(Practitioner | PractitionerRole) GenomicStudy.referrer
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-referrer-ext
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
... code SΣ 0..1 CodeableConcept Art der genomischen Untersuchung
Binding: Genomic Study Type ValueSet (example)
... subject SΣ 1..1 Reference(Patient | Group) Patient/Proband der Untersuchung
... encounter SΣ 0..1 Reference(Encounter) Fallbezug der Untersuchung
... performed[x] SΣ 0..1 dateTime Zeitpunkt oder Zeitraum der Durchführung
... reasonReference SΣ 0..* Reference(Condition | Observation) Anforderung/Indikation für die genetische Untersuchung

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.
Procedure.code Base example Genomic Study Type ValueSet 📦3.0.0 Genomics Reporting Implementation Guide v3.0

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error Procedure If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudy An action that is being or was performed on a patient
... Slices for extension Content/Rules for all slices
.... extension:genomic-study-analysis S 0..* GenomicStudyAnalysisExt Durchgeführte Analysen
... status S 1..1 code Status der genetischen Studie
... code S 0..1 CodeableConcept Art der genomischen Untersuchung
... encounter S 0..1 Reference(Encounter) Fallbezug der Untersuchung
... performed[x] S 0..1 dateTime Zeitpunkt oder Zeitraum der Durchführung
... reasonReference S 0..* Reference(Condition | Observation) Anforderung/Indikation für die genetische Untersuchung

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudy An action that is being or was performed on a patient
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative GenomicStudy.description
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:genomic-study-analysis S 0..* Reference(Genomic Study Analysis) Durchgeführte Analysen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext
.... extension:referrer 0..1 Reference(Practitioner | PractitionerRole) GenomicStudy.referrer
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-referrer-ext
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier GenomicStudy.identifier
... instantiatesCanonical Σ 0..* canonical(PlanDefinition) GenomicStudy.instantiatesCanonical
... instantiatesUri Σ 0..* uri GenomicStudy.instantiatesUri
... basedOn Σ 0..* Reference(ServiceRequest) GenomicStudy.basedOn
... status ?!SΣ 1..1 code Status der genetischen Studie
Binding: EventStatus (required): A code specifying the state of the procedure.
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... code SΣ 0..1 CodeableConcept Art der genomischen Untersuchung
Binding: Genomic Study Type ValueSet (example)
... subject SΣ 1..1 Reference(Patient | Group) Patient/Proband der Untersuchung
... encounter SΣ 0..1 Reference(Encounter) Fallbezug der Untersuchung
... performed[x] SΣ 0..1 dateTime Zeitpunkt oder Zeitraum der Durchführung
... asserter Σ 0..1 Reference(Practitioner | PractitionerRole) GenomicStudy.interpreter
... performer Σ 0..* BackboneElement The people who performed the procedure
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... function Σ 0..1 CodeableConcept Type of performance
Binding: ProcedurePerformerRoleCodes (example): A code that identifies the role of a performer of the procedure.
.... actor Σ 1..1 Reference(Practitioner | PractitionerRole | Organization | Patient | RelatedPerson | Device) The reference to the practitioner
.... onBehalfOf 0..1 Reference(Organization) Organization the device or practitioner was acting for
... reasonCode Σ 0..* CodeableConcept GenomicStudy.reason
Binding: ProcedureReasonCodes (example): A code that identifies the reason a procedure is required.
... reasonReference SΣ 0..* Reference(Condition | Observation) Anforderung/Indikation für die genetische Untersuchung
... note 0..* Annotation GenomicStudy.note

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.language Base preferred Common Languages 📦4.0.1 FHIR Std.
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.
Procedure.code Base example Genomic Study Type ValueSet 📦3.0.0 Genomics Reporting Implementation Guide v3.0
Procedure.performer.​function Base example Procedure Performer Role Codes 📦4.0.1 FHIR Std.
Procedure.reasonCode Base example Procedure Reason Codes 📦4.0.1 FHIR Std.
Procedure.focalDevice.​action Base preferred Procedure Device Action Codes 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error Procedure If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Summary

Must-Support: 7 elements

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudy An action that is being or was performed on a patient
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... Slices for extension Content/Rules for all slices
.... extension:genomic-study-analysis S 0..* Reference(Genomic Study Analysis) Durchgeführte Analysen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext
.... extension:referrer 0..1 Reference(Practitioner | PractitionerRole) GenomicStudy.referrer
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-referrer-ext
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
... code SΣ 0..1 CodeableConcept Art der genomischen Untersuchung
Binding: Genomic Study Type ValueSet (example)
... subject SΣ 1..1 Reference(Patient | Group) Patient/Proband der Untersuchung
... encounter SΣ 0..1 Reference(Encounter) Fallbezug der Untersuchung
... performed[x] SΣ 0..1 dateTime Zeitpunkt oder Zeitraum der Durchführung
... reasonReference SΣ 0..* Reference(Condition | Observation) Anforderung/Indikation für die genetische Untersuchung

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.
Procedure.code Base example Genomic Study Type ValueSet 📦3.0.0 Genomics Reporting Implementation Guide v3.0

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error Procedure If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Differential View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudy An action that is being or was performed on a patient
... Slices for extension Content/Rules for all slices
.... extension:genomic-study-analysis S 0..* GenomicStudyAnalysisExt Durchgeführte Analysen
... status S 1..1 code Status der genetischen Studie
... code S 0..1 CodeableConcept Art der genomischen Untersuchung
... encounter S 0..1 Reference(Encounter) Fallbezug der Untersuchung
... performed[x] S 0..1 dateTime Zeitpunkt oder Zeitraum der Durchführung
... reasonReference S 0..* Reference(Condition | Observation) Anforderung/Indikation für die genetische Untersuchung

doco Documentation for this format

Snapshot ViewView

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Procedure 0..* GenomicStudy An action that is being or was performed on a patient
... id Σ 0..1 id Logical id of this artifact
... meta Σ 0..1 Meta Metadata about the resource
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... text 0..1 Narrative GenomicStudy.description
This profile does not constrain the narrative in regard to content, language, or traceability to data elements
... contained 0..* Resource Contained, inline Resources
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
.... extension:genomic-study-analysis S 0..* Reference(Genomic Study Analysis) Durchgeführte Analysen
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext
.... extension:referrer 0..1 Reference(Practitioner | PractitionerRole) GenomicStudy.referrer
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-referrer-ext
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
... identifier Σ 0..* Identifier GenomicStudy.identifier
... instantiatesCanonical Σ 0..* canonical(PlanDefinition) GenomicStudy.instantiatesCanonical
... instantiatesUri Σ 0..* uri GenomicStudy.instantiatesUri
... basedOn Σ 0..* Reference(ServiceRequest) GenomicStudy.basedOn
... status ?!SΣ 1..1 code Status der genetischen Studie
Binding: EventStatus (required): A code specifying the state of the procedure.
... category Σ 1..1 CodeableConcept Classification of the procedure
Binding: ProcedureCategoryCodes(SNOMEDCT) (example): A code that classifies a procedure for searching, sorting and display purposes.
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... coding Σ 1..1 Coding Code defined by a terminology system

Required Pattern: At least the following
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
..... system 1..1 uri Identity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
..... version 0..1 string Version of the system - if relevant
..... code 1..1 code Symbol in syntax defined by the system
Fixed Value: laboratory
..... display 0..1 string Representation defined by the system
..... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... code SΣ 0..1 CodeableConcept Art der genomischen Untersuchung
Binding: Genomic Study Type ValueSet (example)
... subject SΣ 1..1 Reference(Patient | Group) Patient/Proband der Untersuchung
... encounter SΣ 0..1 Reference(Encounter) Fallbezug der Untersuchung
... performed[x] SΣ 0..1 dateTime Zeitpunkt oder Zeitraum der Durchführung
... asserter Σ 0..1 Reference(Practitioner | PractitionerRole) GenomicStudy.interpreter
... performer Σ 0..* BackboneElement The people who performed the procedure
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... function Σ 0..1 CodeableConcept Type of performance
Binding: ProcedurePerformerRoleCodes (example): A code that identifies the role of a performer of the procedure.
.... actor Σ 1..1 Reference(Practitioner | PractitionerRole | Organization | Patient | RelatedPerson | Device) The reference to the practitioner
.... onBehalfOf 0..1 Reference(Organization) Organization the device or practitioner was acting for
... reasonCode Σ 0..* CodeableConcept GenomicStudy.reason
Binding: ProcedureReasonCodes (example): A code that identifies the reason a procedure is required.
... reasonReference SΣ 0..* Reference(Condition | Observation) Anforderung/Indikation für die genetische Untersuchung
... note 0..* Annotation GenomicStudy.note

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Procedure.language Base preferred Common Languages 📦4.0.1 FHIR Std.
Procedure.status Base required EventStatus 📍4.0.1 FHIR Std.
Procedure.category Base example Procedure Category Codes (SNOMED CT) 📦4.0.1 FHIR Std.
Procedure.code Base example Genomic Study Type ValueSet 📦3.0.0 Genomics Reporting Implementation Guide v3.0
Procedure.performer.​function Base example Procedure Performer Role Codes 📦4.0.1 FHIR Std.
Procedure.reasonCode Base example Procedure Reason Codes 📦4.0.1 FHIR Std.
Procedure.focalDevice.​action Base preferred Procedure Device Action Codes 📦4.0.1 FHIR Std.

Constraints

Id Grade Path(s) Description Expression
dom-2 error Procedure If the resource is contained in another resource, it SHALL NOT contain nested Resources contained.contained.empty()
dom-3 error Procedure If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4 error Procedure If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5 error Procedure If a resource is contained in another resource, it SHALL NOT have a security label contained.meta.security.empty()
dom-6 best practice Procedure A resource should have narrative for robust management text.`div`.exists()
ele-1 error **ALL** elements All FHIR elements must have a @value or children hasValue() or (children().count() > id.count())
ext-1 error **ALL** extensions Must have either extensions or value[x], not both extension.exists() != value.exists()

Summary

Must-Support: 7 elements

 

Other representations of profile: CSV, Excel, Schematron