MII IG Molekulares Tumorboard DE v2025

Genomics Study Analysis: Procedure

Inhalt

Dieses Profil beschreibt die Genomics Study Analysis.

Dieses Profil beschreibt die Genomics Study. Da sich der Aufbau, Umfang und Inhakt von genomischen Analysereport von anderen Diagnostischen Reports (Labor, Bildgebung, Pathologie, Mikrobiologie...) deutlich unterscheidet, wurde in FHIR R5 eine GenomicStudyRessource eingeführt, die alle relevanten Datenelemente beinhaltet.

Da viele nationale und internationale Organisationen weiter auf FHIR R4 setzen, gab es einen offiziellen Backport, so dass die Inhalte einer R5 GenomicStudy über eine übergeordnete GenomicStudy-Prozedur und untergeordnete GenomicStudyAnalysis-Prozeduren abgebildet werden können. Die GenomicStudyAnalysis beinhaltet dabei präzise Daten zu eingesetzen Geräten, Methodik, Referenzgenom etc.

Verknüpfungen zu anderen Ressourcen

Zeitliche Zuordnung im Verlauf

Name	Status	Version	Canonical	Basis
MII_PR_MTB_Genomic_Study_Analysis	draft	2024.0.0-ballot	https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis	http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis

Inhalt

MII_PR_MTB_Genomic_Study_Analysis (Procedure)	I		GenomicStudyAnalysis	There are no (further) constraints on this element Element id Procedure Short description An action that is being or was performed on a patient Definition An action that is or was performed on or for a patient. This can be a physical intervention like an operation, or less invasive like long term services, counseling, or hypnotherapy. Data type GenomicStudyAnalysis Constraints dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources `contained.contained.empty()` dom-3: 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: 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: If a resource is contained in another resource, it SHALL NOT have a security label `contained.meta.security.empty()` dom-6: A resource should have narrative for robust management text.`div`.exists() Mappings rim: Entity. Role, or Act workflow: Event rim: Procedure[moodCode=EVN]
id	Σ	0..1	id	There are no (further) constraints on this element Element id Procedure.id Short description Logical id of this artifact Definition The logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes. Comments The only time that a resource does not have an id is when it is being submitted to the server using a create operation. Data type id
meta	S Σ	0..1	Meta	There are no (further) constraints on this element Element id Procedure.meta Short description Metadata about the resource Definition The metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource. Data type Meta Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
id		0..1	string	There are no (further) constraints on this element Element id Procedure.meta.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	I	0..*	Extension	There are no (further) constraints on this element Element id Procedure.meta.extension Short description Additional content defined by implementations Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
versionId	Σ	0..1	id	There are no (further) constraints on this element Element id Procedure.meta.versionId Short description Version specific identifier Definition The version specific identifier, as it appears in the version portion of the URL. This value changes when the resource is created, updated, or deleted. Comments The server assigns this value, and ignores what the client specifies, except in the case that the server is imposing version integrity on updates/deletes. Data type id Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
lastUpdated	Σ	0..1	instant	There are no (further) constraints on this element Element id Procedure.meta.lastUpdated Short description When the resource version last changed Definition When the resource last changed - e.g. when the version changed. Comments This value is always populated except when the resource is first being created. The server / resource manager sets this value; what a client provides is irrelevant. This is equivalent to the HTTP Last-Modified and SHOULD have the same value on a read interaction. Data type instant Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
source	Σ	0..1	uri	There are no (further) constraints on this element Element id Procedure.meta.source Short description Identifies where the resource comes from Definition A uri that identifies the source system of the resource. This provides a minimal amount of Provenance information that can be used to track or differentiate the source of information in the resource. The source may identify another FHIR server, document, message, database, etc. Comments In the provenance resource, this corresponds to Provenance.entity.what[x]. The exact use of the source (and the implied Provenance.entity.role) is left to implementer discretion. Only one nominated source is allowed; for additional provenance details, a full Provenance resource should be used. This element can be used to indicate where the current master source of a resource that has a canonical URL if the resource is no longer hosted at the canonical URL. Data type uri Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
profile	S Σ	0..*	canonical(StructureDefinition)	There are no (further) constraints on this element Element id Procedure.meta.profile Short description Profiles this resource claims to conform to Definition A list of profiles (references to StructureDefinition resources) that this resource claims to conform to. The URL is a reference to StructureDefinition.url. Comments It is up to the server and/or other infrastructure of policy to determine whether/how these claims are verified and/or updated over time. The list of profile URLs is a set. Data type canonical(StructureDefinition) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
security	Σ	0..*	CodingBinding	There are no (further) constraints on this element Element id Procedure.meta.security Short description Security Labels applied to this resource Definition Security labels applied to this resource. These tags connect specific resources to the overall security policy and infrastructure. Comments The security labels can be updated without changing the stated version of the resource. The list of security labels is a set. Uniqueness is based the system/code, and version and display are ignored. Data type Coding Binding Security Labels from the Healthcare Privacy and Security Classification System. All Security Labels (extensible) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
tag	Σ	0..*	Coding	There are no (further) constraints on this element Element id Procedure.meta.tag Short description Tags applied to this resource Definition Tags applied to this resource. Tags are intended to be used to identify and relate resources to process and workflow, and applications are not required to consider the tags when interpreting the meaning of a resource. Comments The tags can be updated without changing the stated version of the resource. The list of tags is a set. Uniqueness is based the system/code, and version and display are ignored. Data type Coding Binding Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones". CommonTags (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
implicitRules	Σ ?!	0..1	uri	There are no (further) constraints on this element Element id Procedure.implicitRules Short description A set of rules under which this content was created Definition A reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc. Comments Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc. Data type uri Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
language		0..1	codeBinding	There are no (further) constraints on this element Element id Procedure.language Short description Language of the resource content Definition The base language in which the resource is written. Comments Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute). Data type code Binding A human language. CommonLanguages (preferred) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())`
text		0..1	Narrative	There are no (further) constraints on this element Element id Procedure.text Short description Text summary of the resource, for human interpretation Alternate names narrative, html, xhtml, display Definition A human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety. Comments Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later. Data type Narrative Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: Act.text?
contained		0..*	Resource	There are no (further) constraints on this element Element id Procedure.contained Short description Contained, inline Resources Alternate names inline resources, anonymous resources, contained resources Definition These resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope. Comments This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels. Data type Resource Mappings rim: N/A
extension	S I	0..*	Extension	There are no (further) constraints on this element Element id Procedure.extension Short description Extension Definition An Extension Data type Extension Sliced: Unordered, Open, by url(Value) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
method-type	S I	0..*	Extension(CodeableConcept)	Element id Procedure.extension:method-type Short description GenomicStudy.analysis.methodType Definition Defines a method type for a genomic analysis Data type Extension(CodeableConcept) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
id		0..1	string	There are no (further) constraints on this element Element id Procedure.extension:method-type.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	I	0..0	Extension	There are no (further) constraints on this element Element id Procedure.extension:method-type.extension Short description Extension Definition An Extension Data type Extension Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
url		1..1	uriFixed Value	There are no (further) constraints on this element Element id Procedure.extension:method-type.url Short description identifies the meaning of the extension Definition Source of the definition for the extension code - a logical name or a URL. Comments The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension. Data type uri Fixed value http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type Mappings rim: N/A
value[x]		0..1	Binding	Element id Procedure.extension:method-type.value[x] Short description cytogenetics \| deletion-duplication-analysis \| fish \| sequence-analysis-of-the-entire-coding-region \| ... (many) Definition Value of extension - must be one of a constrained set of the data types (see Extensibility for a list). Binding MII_VS_MTB_Genomic_Analysis_Method_Type (required) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
valueCodeableConcept			CodeableConcept	There are no (further) constraints on this element Data type CodeableConcept
change-type	I	0..*	Extension(CodeableConcept)	There are no (further) constraints on this element Element id Procedure.extension:change-type Short description GenomicStudy.analysis.changeType Definition Defines the types of alterations detectable by a given genomic analysis Data type Extension(CodeableConcept) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
genome-build	S I	0..1	Extension(CodeableConcept)	Element id Procedure.extension:genome-build Short description GenomicStudy.analysis.genomeBuild Definition Defines the genome build for a genomic analysis Data type Extension(CodeableConcept) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
genomic-source-class	I	0..1	Extension(CodeableConcept)	There are no (further) constraints on this element Element id Procedure.extension:genomic-source-class Short description GenomicStudy.analysis.genomicSourceClass Definition The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome. Data type Extension(CodeableConcept) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
title	I	0..1	Extension(string)	There are no (further) constraints on this element Element id Procedure.extension:title Short description GenomicStudy.analysis.title Definition Defines a title for a genomic analysis Data type Extension(string) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-title Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
focus	S I	0..*	Extension(Reference(Resource))	Element id Procedure.extension:focus Short description GenomicStudy.analysis.focus Definition Defines a focus for a genomic analysis Data type Extension(Reference(Resource)) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
specimen	S I	0..*	Extension(Reference(Specimen))	Element id Procedure.extension:specimen Short description GenomicStudy.analysis.specimen Definition Defines a specimen for a genomic analysis Data type Extension(Reference(Specimen)) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
metrics	I	0..1	Extension(Complex)	There are no (further) constraints on this element Element id Procedure.extension:metrics Short description Genomic Study Analysis Metrics Definition Metrics about the sequencing analysis that was performed Data type Extension(Complex) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
regions	S I	0..1	Extension(Complex)	Element id Procedure.extension:regions Short description Genomic Study Analysis Regions Definition Defines the regions studied, regions called, and regions deemed uncallable (generally due to low coverage) Data type Extension(Complex) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
device	S I	0..*	Extension(Complex)	Element id Procedure.extension:device Short description GenomicStudy.analysis.device Definition Genomic Study Analysis Device Data type Extension(Complex) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
protocol-performed	I	0..1	Extension(Reference(Procedure \| Task))	There are no (further) constraints on this element Element id Procedure.extension:protocol-performed Short description GenomicStudy.protocolPerformed Definition Defines a protocol that was performed for a genomic analysis Data type Extension(Reference(Procedure \| Task)) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-protocol-performed Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
input	I	0..*	Extension(Complex)	There are no (further) constraints on this element Element id Procedure.extension:input Short description GenomicStudy.analysis.input Definition Genomic Study Analysis Input Data type Extension(Complex) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-input Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
output	I	0..*	Extension(Complex)	There are no (further) constraints on this element Element id Procedure.extension:output Short description GenomicStudy.analysis.output Definition Genomic Study Analysis Output Data type Extension(Complex) Extension URL http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()`
qc	S I	0..1	Extension(Complex)	Element id Procedure.extension:qc Short description MII EX MTB Antrag GenomicsStudyAnalysis Metrics Definition Sequenzierbezogenen Metriken der Genomic Study Analysis Data type Extension(Complex) Extension URL https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-genomic-study-analysis-qc Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a rim: N/A
modifierExtension	?! I	0..*	Extension	There are no (further) constraints on this element Element id Procedure.modifierExtension Short description Extensions that cannot be ignored Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). Requirements Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
identifier	S Σ	0..*	Identifier	There are no (further) constraints on this element Element id Procedure.identifier Short description GenomicStudy.analysis.identifier Definition Business identifiers assigned to this procedure by the performer or other systems which remain constant as the resource is updated and is propagated from server to server. Requirements Allows identification of the procedure as it is known by various participating systems and in a way that remains consistent across servers. Comments This is a business identifier, not a resource identifier (see discussion). It is best practice for the identifier to only appear on a single resource instance, however business practices may occasionally dictate that multiple resource instances with the same identifier can exist - possibly even with different resource types. For example, multiple Patient and Person resource instances might share the same social insurance number. Data type Identifier Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.identifier w5: FiveWs.identifier v2: Some combination of ORC-2 / ORC-3 / OBR-2 / OBR-3 / IPC-1 / IPC-2 / IPC-3 / IPC-4 rim: .id
instantiatesCanonical	Σ	0..*	canonical(PlanDefinition \| ActivityDefinition)	There are no (further) constraints on this element Element id Procedure.instantiatesCanonical Short description GenomicStudy.analysis.instantiatesCanonical Definition The URL pointing to a FHIR-defined protocol, guideline, order set or other definition that is adhered to in whole or in part by this Procedure. Data type canonical(PlanDefinition \| ActivityDefinition) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.instantiatesCanonical rim: .outboundRelationship[typeCode=DEFN].target
instantiatesUri	Σ	0..*	uri	There are no (further) constraints on this element Element id Procedure.instantiatesUri Short description GenomicStudy.analysis.instantiatesUri Definition The URL pointing to an externally maintained protocol, guideline, order set or other definition that is adhered to in whole or in part by this Procedure. Comments This might be an HTML page, PDF, etc. or could just be a non-resolvable URI identifier. Data type uri Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.instantiatesUri rim: .outboundRelationship[typeCode=DEFN].target
basedOn	Σ	0..0	Reference(CarePlan \| ServiceRequest)	There are no (further) constraints on this element Element id Procedure.basedOn Short description A request for this procedure Alternate names fulfills Definition A reference to a resource that contains details of the request for this procedure. Data type Reference(CarePlan \| ServiceRequest) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.basedOn rim: .outboundRelationship[typeCode=FLFS].target[classCode=(various e.g. PROC, OBS, PCPR, ACT, moodCode=RQO].code
partOf	Σ	0..0	Reference(Procedure \| Observation \| MedicationAdministration)	There are no (further) constraints on this element Element id Procedure.partOf Short description Part of referenced event Alternate names container Definition A larger event of which this particular procedure is a component or step. Comments The MedicationAdministration resource has a partOf reference to Procedure, but this is not a circular reference. For example, the anesthesia MedicationAdministration is part of the surgical Procedure (MedicationAdministration.partOf = Procedure). For example, the procedure to insert the IV port for an IV medication administration is part of the medication administration (Procedure.partOf = MedicationAdministration). Data type Reference(Procedure \| Observation \| MedicationAdministration) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.partOf rim: .inboundRelationship[typeCode=COMP].source[classCode=SBADM or PROC or OBS, moodCode=EVN]
status	S Σ ?!	1..1	codeBindingPattern	There are no (further) constraints on this element Element id Procedure.status Short description preparation \| in-progress \| not-done \| on-hold \| stopped \| completed \| entered-in-error \| unknown Definition A code specifying the state of the procedure. Generally, this will be the in-progress or completed state. Comments The "unknown" code is not to be used to convey other statuses. The "unknown" code should be used when one of the statuses applies, but the authoring system doesn't know the current state of the procedure. This element is labeled as a modifier because the status contains codes that mark the resource as not currently valid. Data type code Binding A code specifying the state of the procedure. EventStatus (required) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Pattern completed Mappings workflow: Event.status w5: FiveWs.status rim: statusCode
statusReason	Σ	0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.statusReason Short description Reason for current status Alternate names Suspended Reason, Cancelled Reason Definition Captures the reason for the current state of the procedure. Comments This is generally only used for "exception" statuses such as "not-done", "suspended" or "aborted". The reason for performing the event at all is captured in reasonCode, not here. Data type CodeableConcept Binding A code that identifies the reason a procedure was not performed. ProcedureNotPerformedReason(SNOMED-CT) (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.statusReason rim: .reason.Observation.value
category	S Σ	1..1	CodeableConcept	There are no (further) constraints on this element Element id Procedure.category Short description Classification of the procedure Definition A code that classifies the procedure for searching, sorting and display purposes (e.g. "Surgical Procedure"). Data type CodeableConcept Binding A code that classifies a procedure for searching, sorting and display purposes. ProcedureCategoryCodes(SNOMEDCT) (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings w5: FiveWs.class rim: .outboundRelationship[typeCode="COMP].target[classCode="LIST", moodCode="EVN"].code
id		0..1	string	There are no (further) constraints on this element Element id Procedure.category.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	I	0..*	Extension	There are no (further) constraints on this element Element id Procedure.category.extension Short description Additional content defined by implementations Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Sliced: Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
coding	Σ	1..1	CodingPattern	There are no (further) constraints on this element Element id Procedure.category.coding Short description Code defined by a terminology system Definition A reference to a code defined by a terminology system. Requirements Allows for alternative encodings within a code system, and translations to other code systems. Comments Codes may be defined very casually in enumerations, or code lists, up to very formal definitions such as SNOMED CT - see the HL7 v3 Core Principles for more information. Ordering of codings is undefined and SHALL NOT be used to infer meaning. Generally, at most only one of the coding values will be labeled as UserSelected = true. Data type Coding Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Pattern { "system": "http://terminology.hl7.org/CodeSystem/observation-category", "code": "laboratory" } Mappings v2: CE.1-8, CE.10-22 rim: union(., ./translation) orim: fhir:CodeableConcept.coding rdfs:subPropertyOf dt:CD.coding
text	Σ	0..1	string	There are no (further) constraints on this element Element id Procedure.category.text Short description Plain text representation of the concept Definition A human language representation of the concept as seen/selected/uttered by the user who entered the data and/or which represents the intended meaning of the user. Requirements The codes from the terminologies do not always capture the correct meaning with all the nuances of the human using them, or sometimes there is no appropriate code at all. In these cases, the text is used to capture the full meaning of the source. Comments Very often the text is the same as a displayName of one of the codings. Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings v2: CE.9. But note many systems use CE.2 for this rim: ./originalText[mediaType/code="text/plain"]/data orim: fhir:CodeableConcept.text rdfs:subPropertyOf dt:CD.originalText
code	Σ	0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.code Short description Identification of the procedure Alternate names type Definition The specific procedure that is performed. Use text if the exact nature of the procedure cannot be coded (e.g. "Laparoscopic Appendectomy"). Requirements 0..1 to account for primarily narrative only resources. Data type CodeableConcept Binding A code to identify a specific procedure . ProcedureCodes(SNOMEDCT) (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.code w5: FiveWs.what[x] v2: OBR-44/OBR-45 rim: .code
subject	Σ	1..1	Reference(Patient \| Group)	There are no (further) constraints on this element Element id Procedure.subject Short description Who the procedure was performed on Alternate names patient Definition The person, animal or group on which the procedure was performed. Data type Reference(Patient \| Group) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.subject w5: FiveWs.subject[x] v2: PID-3 rim: .participation[typeCode=SBJ].role w5: FiveWs.subject
encounter	Σ	0..0	Reference(Encounter)	There are no (further) constraints on this element Element id Procedure.encounter Short description Encounter created as part of Definition The Encounter during which this Procedure was created or performed or to which the creation of this record is tightly associated. Comments This will typically be the encounter the event occurred within, but some activities may be initiated prior to or after the official completion of an encounter but still be tied to the context of the encounter. Data type Reference(Encounter) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.context w5: FiveWs.context v2: PV1-19 rim: .inboundRelationship[typeCode=COMP].source[classCode=ENC, moodCode=EVN]
performed[x]	S Σ	0..1		There are no (further) constraints on this element Element id Procedure.performed[x] Short description GenomicStudy.analysis.date Definition Estimated or actual date, date-time, period, or age when the procedure was performed. Allows a period to support complex procedures that span more than one date, and also allows for the length of the procedure to be captured. Comments Age is generally used when the patient reports an age at which the procedure was performed. Range is generally used when the patient reports an age range when the procedure was performed, such as sometime between 20-25 years old. dateTime supports a range of precision due to some procedures being reported as past procedures that might not have millisecond precision while other procedures performed and documented during the encounter might have more precise UTC timestamps with timezone. Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.occurrence[x] w5: FiveWs.done[x] v2: OBR-7 rim: .effectiveTime
performedDateTime			dateTime	There are no (further) constraints on this element Data type dateTime
recorder	Σ	0..0	Reference(Patient \| RelatedPerson \| Practitioner \| PractitionerRole)	There are no (further) constraints on this element Element id Procedure.recorder Short description Who recorded the procedure Definition Individual who recorded the record and takes responsibility for its content. Data type Reference(Patient \| RelatedPerson \| Practitioner \| PractitionerRole) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings w5: FiveWs.author rim: .participation[typeCode=AUT].role
asserter	Σ	0..0	Reference(Patient \| RelatedPerson \| Practitioner \| PractitionerRole)	There are no (further) constraints on this element Element id Procedure.asserter Short description Person who asserts this procedure Definition Individual who is making the procedure statement. Data type Reference(Patient \| RelatedPerson \| Practitioner \| PractitionerRole) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings w5: FiveWs.source rim: .participation[typeCode=INF].role
performer	Σ	0..*	BackboneElement	There are no (further) constraints on this element Element id Procedure.performer Short description The people who performed the procedure Definition Limited to "real" people rather than equipment. Data type BackboneElement Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.performer rim: .participation[typeCode=PRF]
id		0..1	string	There are no (further) constraints on this element Element id Procedure.performer.id Short description Unique id for inter-element referencing Definition Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces. Data type string Mappings rim: n/a
extension	I	0..*	Extension	There are no (further) constraints on this element Element id Procedure.performer.extension Short description Additional content defined by implementations Alternate names extensions, user content Definition May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! I	0..*	Extension	There are no (further) constraints on this element Element id Procedure.performer.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers Definition May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). Requirements Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions. Comments There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
function	Σ	0..1	CodeableConcept	There are no (further) constraints on this element Element id Procedure.performer.function Short description GenomicStudy.analysis.performer.role Definition Distinguishes the type of involvement of the performer in the procedure. For example, surgeon, anaesthetist, endoscopist. Requirements Allows disambiguation of the types of involvement of different performers. Data type CodeableConcept Binding A code that identifies the role of a performer of the procedure. ProcedurePerformerRoleCodes (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.performer.function v2: Some combination of STF-18 / PRA-3 / PRT-4 / ROL-3 / ORC-12 / OBR-16 / PV1-7 / PV1-8 / PV1-9 / PV1-17 / OBX-25 rim: .functionCode
actor	Σ	1..1	Reference(Practitioner \| PractitionerRole \| Organization \| Device)	There are no (further) constraints on this element Element id Procedure.performer.actor Short description GenomicStudy.analysis.performer.actor Definition The practitioner who was involved in the procedure. Requirements A reference to Device supports use cases, such as pacemakers. Data type Reference(Practitioner \| PractitionerRole \| Organization \| Device) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.performer.actor w5: FiveWs.actor v2: ORC-19/PRT-5 rim: .role
onBehalfOf		0..1	Reference(Organization)	There are no (further) constraints on this element Element id Procedure.performer.onBehalfOf Short description Organization the device or practitioner was acting for Definition The organization the device or practitioner was acting on behalf of. Requirements Practitioners and Devices can be associated with multiple organizations. This element indicates which organization they were acting on behalf of when performing the action. Data type Reference(Organization) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .scoper
location	Σ	0..0	Reference(Location)	There are no (further) constraints on this element Element id Procedure.location Short description Where the procedure happened Definition The location where the procedure actually happened. E.g. a newborn at home, a tracheostomy at a restaurant. Requirements Ties a procedure to where the records are likely kept. Data type Reference(Location) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings w5: FiveWs.where[x] rim: .participation[typeCode=LOC].role[classCode=SDLOC]
reasonCode	Σ	0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.reasonCode Short description Coded reason procedure performed Definition The coded reason why the procedure was performed. This may be a coded entity of some type, or may simply be present as text. Comments Use Procedure.reasonCode when a code sufficiently describes the reason. Use Procedure.reasonReference when referencing a resource, which allows more information to be conveyed, such as onset date. Procedure.reasonCode and Procedure.reasonReference are not meant to be duplicative. For a single reason, either Procedure.reasonCode or Procedure.reasonReference can be used. Procedure.reasonCode may be a summary code, or Procedure.reasonReference may be used to reference a very precise definition of the reason using Condition \| Observation \| Procedure \| DiagnosticReport \| DocumentReference. Both Procedure.reasonCode and Procedure.reasonReference can be used if they are describing different reasons for the procedure. Data type CodeableConcept Binding A code that identifies the reason a procedure is required. ProcedureReasonCodes (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.reasonCode w5: FiveWs.why[x] rim: .reasonCode
reasonReference	Σ	0..0	Reference(Condition \| Observation \| Procedure \| DiagnosticReport \| DocumentReference)	There are no (further) constraints on this element Element id Procedure.reasonReference Short description The justification that the procedure was performed Definition The justification of why the procedure was performed. Comments It is possible for a procedure to be a reason (such as C-Section) for another procedure (such as an epidural). Other examples include endoscopy for dilatation and biopsy (a combination of diagnostic and therapeutic use). Use Procedure.reasonCode when a code sufficiently describes the reason. Use Procedure.reasonReference when referencing a resource, which allows more information to be conveyed, such as onset date. Procedure.reasonCode and Procedure.reasonReference are not meant to be duplicative. For a single reason, either Procedure.reasonCode or Procedure.reasonReference can be used. Procedure.reasonCode may be a summary code, or Procedure.reasonReference may be used to reference a very precise definition of the reason using Condition \| Observation \| Procedure \| DiagnosticReport \| DocumentReference. Both Procedure.reasonCode and Procedure.reasonReference can be used if they are describing different reasons for the procedure. Data type Reference(Condition \| Observation \| Procedure \| DiagnosticReport \| DocumentReference) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.reasonReference w5: FiveWs.why[x] rim: .reasonCode
bodySite	Σ	0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.bodySite Short description Target body sites Definition Detailed and structured anatomical location information. Multiple locations are allowed - e.g. multiple punch biopsies of a lesion. Comments If the use case requires attributes from the BodySite resource (e.g. to identify and track separately) then use the standard extension procedure-targetbodystructure. Data type CodeableConcept Binding Codes describing anatomical locations. May include laterality. SNOMEDCTBodyStructures (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings v2: OBX-20 rim: .targetSiteCode
outcome	Σ	0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.outcome Short description The result of procedure Definition The outcome of the procedure - did it resolve the reasons for the procedure being performed? Comments If outcome contains narrative text only, it can be captured using the CodeableConcept.text. Data type CodeableConcept Binding An outcome of a procedure - whether it was resolved or otherwise. ProcedureOutcomeCodes(SNOMEDCT) (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .outboundRelationship[typeCode=OUT].target.text
report		0..0	Reference(DiagnosticReport \| DocumentReference \| Composition)	There are no (further) constraints on this element Element id Procedure.report Short description Any report resulting from the procedure Definition This could be a histology result, pathology report, surgical report, etc. Comments There could potentially be multiple reports - e.g. if this was a procedure which took multiple biopsies resulting in a number of anatomical pathology reports. Data type Reference(DiagnosticReport \| DocumentReference \| Composition) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN]
complication		0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.complication Short description Complication following the procedure Definition Any complications that occurred during the procedure, or in the immediate post-performance period. These are generally tracked separately from the notes, which will typically describe the procedure itself rather than any 'post procedure' issues. Comments If complications are only expressed by the narrative text, they can be captured using the CodeableConcept.text. Data type CodeableConcept Binding Codes describing complications that resulted from a procedure. Condition/Problem/DiagnosisCodes (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .outboundRelationship[typeCode=OUTC].target[classCode=OBS, code="complication", moodCode=EVN].value
complicationDetail		0..0	Reference(Condition)	There are no (further) constraints on this element Element id Procedure.complicationDetail Short description A condition that is a result of the procedure Definition Any complications that occurred during the procedure, or in the immediate post-performance period. Requirements This is used to document a condition that is a result of the procedure, not the condition that was the reason for the procedure. Data type Reference(Condition) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .outboundRelationship[typeCode=OUTC].target[classCode=OBS, code="complication", moodCode=EVN].value
followUp		0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.followUp Short description Instructions for follow up Definition If the procedure required specific follow up - e.g. removal of sutures. The follow up may be represented as a simple note or could potentially be more complex, in which case the CarePlan resource can be used. Data type CodeableConcept Binding Specific follow up required for a procedure e.g. removal of sutures. ProcedureFollowUpCodes(SNOMEDCT) (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .outboundRelationship[typeCode=COMP].target[classCode=ACT, moodCode=INT].code
note		0..*	Annotation	There are no (further) constraints on this element Element id Procedure.note Short description GenomicStudy.analysis.note Definition Any other notes and comments about the procedure. Data type Annotation Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings workflow: Event.note v2: NTE rim: .inboundRelationship[typeCode=SUBJ].source[classCode=OBS, moodCode=EVN, code="annotation"].value
focalDevice		0..0	BackboneElement	There are no (further) constraints on this element Element id Procedure.focalDevice Short description Manipulated, implanted, or removed device Definition A device that is implanted, removed or otherwise manipulated (calibration, battery replacement, fitting a prosthesis, attaching a wound-vac, etc.) as a focal portion of the Procedure. Data type BackboneElement Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .participation[typeCode=DEV].role[classCode=MANU]
usedReference		0..0	Reference(Device \| Medication \| Substance)	There are no (further) constraints on this element Element id Procedure.usedReference Short description Items used during procedure Definition Identifies medications, devices and any other substance used as part of the procedure. Requirements Used for tracking contamination, etc. Comments For devices actually implanted or removed, use Procedure.device. Data type Reference(Device \| Medication \| Substance) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .participation[typeCode=DEV].role[classCode=MANU] or .participation[typeCode=CSM].role[classCode=ADMM] (for Medication or Substance)
usedCode		0..0	CodeableConcept	There are no (further) constraints on this element Element id Procedure.usedCode Short description Coded items used during the procedure Definition Identifies coded items that were used as part of the procedure. Comments For devices actually implanted or removed, use Procedure.device. Data type CodeableConcept Binding Codes describing items used during a procedure. FHIRDeviceTypes (example) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: participation[typeCode=Dev].role[classCode=MANU]

Die Genomic Data analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung.

Feldname
Procedure.meta
Procedure.meta.profile
Procedure.extension
Procedure.extension:method-type
Procedure.extension:genome-build
Procedure.extension:focus
Procedure.extension:specimen
Procedure.extension:regions
Procedure.extension:device
Procedure.extension:qc
Procedure.identifier
Procedure.status
Procedure.category
Procedure.performed[x]

<StructureDefinition xmlns="http://hl7.org/fhir">
    <id value="genomic-study-analysis" />
    <url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis" />
    <version value="2024.0.0-ballot" />
    <name value="MII_PR_MTB_Genomic_Study_Analysis" />
    <title value="Genomic Study Analysis" />
    <status value="draft" />
    <publisher value="Medizininformatik Initiative" />
    <contact>
        <telecom>
            <system value="url" />
            <value value="https://www.medizininformatik-initiative.de" />
        </telecom>
    </contact>
    <description value="Die Genomic Data analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung." />
    <fhirVersion value="4.0.1" />
    <kind value="resource" />
    <abstract value="false" />
    <type value="Procedure" />
    <baseDefinition value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis" />
    <derivation value="constraint" />
    <differential>
        <element id="Procedure.meta">
            <path value="Procedure.meta" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.meta.profile">
            <path value="Procedure.meta.profile" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension">
            <path value="Procedure.extension" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:method-type">
            <path value="Procedure.extension" />
            <sliceName value="method-type" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:method-type.value[x]">
            <path value="Procedure.extension.value[x]" />
            <binding>
                <strength value="required" />
                <valueSet value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-genomic-analysis-method-type" />
            </binding>
        </element>
        <element id="Procedure.extension:genome-build">
            <path value="Procedure.extension" />
            <sliceName value="genome-build" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:focus">
            <path value="Procedure.extension" />
            <sliceName value="focus" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:specimen">
            <path value="Procedure.extension" />
            <sliceName value="specimen" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:regions">
            <path value="Procedure.extension" />
            <sliceName value="regions" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:device">
            <path value="Procedure.extension" />
            <sliceName value="device" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.extension:qc">
            <path value="Procedure.extension" />
            <sliceName value="qc" />
            <min value="0" />
            <max value="1" />
            <type>
                <code value="Extension" />
                <profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-genomic-study-analysis-qc" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="Procedure.identifier">
            <path value="Procedure.identifier" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.status">
            <path value="Procedure.status" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.category">
            <path value="Procedure.category" />
            <mustSupport value="true" />
        </element>
        <element id="Procedure.performed[x]">
            <path value="Procedure.performed[x]" />
            <mustSupport value="true" />
        </element>
    </differential>
</StructureDefinition>

{
    "resourceType": "StructureDefinition",
    "id": "genomic-study-analysis",
    "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis",
    "version": "2024.0.0-ballot",
    "name": "MII_PR_MTB_Genomic_Study_Analysis",
    "title": "Genomic Study Analysis",
    "status": "draft",
    "publisher": "Medizininformatik Initiative",
    "contact":  [
        {
            "telecom":  [
                {
                    "system": "url",
                    "value": "https://www.medizininformatik-initiative.de"
                }
            ]
        }
    ],
    "description": "Die Genomic Data analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung.",
    "fhirVersion": "4.0.1",
    "kind": "resource",
    "abstract": false,
    "type": "Procedure",
    "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis",
    "derivation": "constraint",
    "differential": {
        "element":  [
            {
                "id": "Procedure.meta",
                "path": "Procedure.meta",
                "mustSupport": true
            },
            {
                "id": "Procedure.meta.profile",
                "path": "Procedure.meta.profile",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension",
                "path": "Procedure.extension",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:method-type",
                "path": "Procedure.extension",
                "sliceName": "method-type",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:method-type.value[x]",
                "path": "Procedure.extension.value[x]",
                "binding": {
                    "strength": "required",
                    "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-genomic-analysis-method-type"
                }
            },
            {
                "id": "Procedure.extension:genome-build",
                "path": "Procedure.extension",
                "sliceName": "genome-build",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:focus",
                "path": "Procedure.extension",
                "sliceName": "focus",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:specimen",
                "path": "Procedure.extension",
                "sliceName": "specimen",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:regions",
                "path": "Procedure.extension",
                "sliceName": "regions",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:device",
                "path": "Procedure.extension",
                "sliceName": "device",
                "mustSupport": true
            },
            {
                "id": "Procedure.extension:qc",
                "path": "Procedure.extension",
                "sliceName": "qc",
                "min": 0,
                "max": "1",
                "type":  [
                    {
                        "code": "Extension",
                        "profile":  [
                            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-genomic-study-analysis-qc"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "Procedure.identifier",
                "path": "Procedure.identifier",
                "mustSupport": true
            },
            {
                "id": "Procedure.status",
                "path": "Procedure.status",
                "mustSupport": true
            },
            {
                "id": "Procedure.category",
                "path": "Procedure.category",
                "mustSupport": true
            },
            {
                "id": "Procedure.performed[x]",
                "path": "Procedure.performed[x]",
                "mustSupport": true
            }
        ]
    }
}

Genomic Study Analysis

Mapping Datensatz zu FHIR

Datensatz	Erklaerung	FHIR
RNA Fusion	RNA Fusion	MII_PR_MTB_RNA_Seq
Varianten ID	Varianten ID	MII_PR_MTB_RNA_Seq.component[variation-code]
Entrez ID	Entrez ID	MII_PR_MTB_RNA_Seq.component[variation-code]
Ensemble ID	Ensemble ID	MII_PR_MTB_RNA_Seq.component[variation-code]
Gen	Gen	MII_PR_MTB_RNA_Seq.component[gene-studied]
Transcript ID	Transcript ID	MII_PR_MTB_RNA_Seq.component[transcript-id]
Transcripts Per Million	Transcripts Per Million	MII_PR_MTB_RNA_Seq.component[transcripts-per-million]
Tissue Corrected Expression	Tissue Corrected Expression	MII_PR_MTB_RNA_Seq.component[tissue-corrected-expression]
Raw counts	Raw counts	MII_PR_MTB_RNA_Seq.component[raw-counts]
Library size	Library size	MII_PR_MTB_RNA_Seq.component[library-size]
Cohort ranking	Cohort ranking	MII_PR_MTB_RNA_Seq.component[cohort-ranking]

Suchparameter

Folgende Suchparameter sind für das Modul Onkologie relevant, auch in Kombination:

Der Suchparameter "_id" MUSS unterstützt werden:

Beispiele:

GET [base]/Observation?_id=12345

Anwendungshinweise: Weitere Informationen zur Suche nach "_id" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".
Der Suchparameter "_profile" MUSS unterstützt werden:

Beispiele:

GET [base]/Procedure?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis

Anwendungshinweise: Weitere Informationen zur Suche nach "_profile" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".
Der Suchparameter "focus" MUSS unterstützt werden:

Beispiele:

GET [base]/Procedure?focus=Condition/example-mii-mtb-diagnose

Anwendungshinweise: Weitere Informationen zur Suche nach "focus" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "specimen" MUSS unterstützt werden:

Beispiele:

GET [base]/Procedure?specimen=Specimen/example-mii-mtb-specimen

Anwendungshinweise: Weitere Informationen zur Suche nach "specimen" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "device" MUSS unterstützt werden:

Beispiele:

GET [base]/Procedure?device=Device/example-mii-molgen-device-sequencer

Anwendungshinweise: Weitere Informationen zur Suche nach "device" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "category" MUSS unterstützt werden:

Beispiele:

GET [base]/Procedure?category=http://terminology.hl7.org/CodeSystem/observation-category|laboratory

Anwendungshinweise: Weitere Informationen zur Suche nach "category" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

Beispiele

Tabelle
JSON

Procedure.id[0]	MII-EXA-MTB-GenomicStudyAnalysis-1
Procedure.meta[0].profile[0]	https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis
Procedure.extension[0].url[0]	http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type
Procedure.extension[0].value[0].coding[0].system[0]	http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs
Procedure.extension[0].value[0].coding[0].code[0]	ngs-mps
Procedure.extension[0].value[0].coding[0].display[0]	Next-Generation (NGS)/Massively parallel sequencing (MPS)
Procedure.extension[1].url[0]	http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus
Procedure.extension[1].value[0].reference[0]	Patient/example
Procedure.extension[2].extension[0].url[0]	device
Procedure.extension[2].extension[0].value[0].reference[0]	Device/MII-EXA-MTB-Device-Sequencer-1
Procedure.extension[2].extension[1].url[0]	function
Procedure.extension[2].extension[1].value[0].coding[0].system[0]	https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[2].extension[1].value[0].coding[0].code[0]	sequencing-device
Procedure.extension[2].url[0]	http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[3].extension[0].url[0]	device
Procedure.extension[3].extension[0].value[0].reference[0]	Device/MII-EXA-MTB-Device-SequencingKit-1
Procedure.extension[3].extension[1].url[0]	function
Procedure.extension[3].extension[1].value[0].coding[0].system[0]	https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[3].extension[1].value[0].coding[0].code[0]	sequencing-kit
Procedure.extension[3].url[0]	http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[4].extension[0].url[0]	device
Procedure.extension[4].extension[0].value[0].reference[0]	Device/MII-EXA-MTB-Device-LibraryPreparation-Kit-1
Procedure.extension[4].extension[1].url[0]	function
Procedure.extension[4].extension[1].value[0].coding[0].system[0]	https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[4].extension[1].value[0].coding[0].code[0]	library-preparation-kit
Procedure.extension[4].url[0]	http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[5].url[0]	http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build
Procedure.extension[5].value[0].coding[0].system[0]	http://loinc.org
Procedure.extension[5].value[0].coding[0].code[0]	LA26806-2
Procedure.extension[5].value[0].coding[0].display[0]	GRCh38
Procedure.status[0]	completed
Procedure.category[0].coding[0].system[0]	http://terminology.hl7.org/CodeSystem/observation-category
Procedure.category[0].coding[0].code[0]	laboratory
Procedure.subject[0].reference[0]	Patient/example

{
    "resourceType": "Procedure",
    "id": "MII-EXA-MTB-GenomicStudyAnalysis-1",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis"
        ]
    },
    "extension":  [
        {
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "ngs-mps",
                        "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
                        "display": "Next-Generation (NGS)/Massively parallel sequencing (MPS)"
                    }
                ]
            }
        },
        {
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus",
            "valueReference": {
                "reference": "Patient/example"
            }
        },
        {
            "extension":  [
                {
                    "url": "device",
                    "valueReference": {
                        "reference": "Device/MII-EXA-MTB-Device-Sequencer-1"
                    }
                },
                {
                    "url": "function",
                    "valueCodeableConcept": {
                        "coding":  [
                            {
                                "code": "sequencing-device",
                                "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
                            }
                        ]
                    }
                }
            ],
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
        },
        {
            "extension":  [
                {
                    "url": "device",
                    "valueReference": {
                        "reference": "Device/MII-EXA-MTB-Device-SequencingKit-1"
                    }
                },
                {
                    "url": "function",
                    "valueCodeableConcept": {
                        "coding":  [
                            {
                                "code": "sequencing-kit",
                                "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
                            }
                        ]
                    }
                }
            ],
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
        },
        {
            "extension":  [
                {
                    "url": "device",
                    "valueReference": {
                        "reference": "Device/MII-EXA-MTB-Device-LibraryPreparation-Kit-1"
                    }
                },
                {
                    "url": "function",
                    "valueCodeableConcept": {
                        "coding":  [
                            {
                                "code": "library-preparation-kit",
                                "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
                            }
                        ]
                    }
                }
            ],
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
        },
        {
            "url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "code": "LA26806-2",
                        "system": "http://loinc.org",
                        "display": "GRCh38"
                    }
                ]
            }
        }
    ],
    "status": "completed",
    "category": {
        "coding":  [
            {
                "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                "code": "laboratory"
            }
        ]
    },
    "subject": {
        "reference": "Patient/example"
    }
}