Dieses Profil beschreibt die BRCAness. Die BRCAness beschreibt, dass der Tumor Eigenschaften aufweist, die denen einer BRCA-Mutation ähneln (unabhängig davon, ob tatsächlich eine BRCA-Mutation vorliegt oder die Eigenschaften eine andere Ursache besitzen). Tumoren mit BRCAness weisen eine homologe Rekombinationsdefizienz auf (HRD) auf.
| Name | Status | Version | Canonical | Basis |
|---|---|---|---|---|
| MII_PR_MTB_BRCAness | draft | 2024.0.0-ballot | https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness | https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker |
| MII_PR_MTB_BRCAness (Observation) | I | MII_PR_MTB_Molekularer_Biomarker | |
| id | Σ | 0..1 | string |
| meta | S Σ | 0..1 | Meta |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| versionId | Σ | 0..1 | id |
| lastUpdated | Σ | 0..1 | instant |
| source | Σ | 0..1 | uri |
| profile | S Σ | 0..* | canonical(StructureDefinition) |
| security | Σ | 0..* | CodingBinding |
| tag | Σ | 0..* | Coding |
| implicitRules | Σ ?! | 0..1 | uri |
| language | 0..1 | codeBinding | |
| text | 0..1 | Narrative | |
| contained | 0..* | Resource | |
| extension | I | 0..* | Extension |
| modifierExtension | ?! I | 0..* | Extension |
| identifier | S Σ | 0..* | Identifier |
| basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) |
| partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) |
| status | Σ ?! | 1..1 | codeBinding |
| category | S | 3..* | CodeableConceptBinding |
| labCategory | S | 1..1 | CodeableConceptBinding |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| coding | Σ | 1..1 | CodingPattern |
| text | Σ | 0..1 | string |
| geCategory | 1..1 | CodeableConceptBinding | |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| coding | Σ | 1..1 | CodingPattern |
| text | Σ | 0..1 | string |
| mbCategory | 1..1 | CodeableConceptBinding | |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| coding | Σ | 1..1 | CodingPattern |
| text | Σ | 0..1 | string |
| code | Σ | 1..1 | CodeableConceptBindingPattern |
| subject | S Σ | 1..1 | Reference(Patient | Group) |
| focus | S Σ | 0..* | Reference(MII_PR_Onko_Diagnose_Primaertumor | MII_PR_MTB_Diagnose_Primaertumor) |
| encounter | S Σ | 0..1 | Reference(Encounter) |
| effective[x] | Σ | 0..1 | |
| effectiveDateTime | dateTime | ||
| effectivePeriod | Period | ||
| effectiveTiming | Timing | ||
| effectiveInstant | instant | ||
| issued | Σ | 0..1 | instant |
| performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) |
| value[x] | S Σ I | 0..1 | |
| (All Slices) | |||
| valueCodeableConcept | CodeableConcept | ||
| valueString | string | ||
| valueBoolean | boolean | ||
| valueInteger | integer | ||
| valueRange | Range | ||
| valueRatio | Ratio | ||
| valueSampledData | SampledData | ||
| valueTime | time | ||
| valueDateTime | dateTime | ||
| valuePeriod | Period | ||
| valueQuantity | S Σ I | 0..1 | Quantity |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| value | S Σ | 0..1 | decimal |
| comparator | Σ ?! | 0..1 | codeBinding |
| unit | Σ | 0..1 | stringPattern |
| system | Σ I | 0..1 | uriPattern |
| code | Σ | 0..1 | codePattern |
| dataAbsentReason | I | 0..1 | CodeableConceptBinding |
| interpretation | S | 0..* | CodeableConceptBinding |
| note | 0..* | Annotation | |
| bodySite | 0..1 | CodeableConcept | |
| method | 0..1 | CodeableConcept | |
| specimen | S | 0..1 | Reference(Specimen) |
| device | 0..1 | Reference(Device | DeviceMetric) | |
| referenceRange | I | 0..* | BackboneElement |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| modifierExtension | Σ ?! I | 0..* | Extension |
| low | I | 0..1 | SimpleQuantity |
| high | I | 0..1 | SimpleQuantity |
| type | 0..1 | CodeableConceptBinding | |
| appliesTo | 0..* | CodeableConcept | |
| age | 0..1 | Range | |
| text | 0..1 | string | |
| hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) |
| derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) |
| variant | Σ | 0..* | Reference(Variant) |
| genotype | Σ | 0..* | Reference(Genotype) |
| haplotype | Σ | 0..* | Reference(Haplotype) |
| component | S Σ | 0..* | BackboneElement |
| (All Slices) | |||
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| modifierExtension | Σ ?! I | 0..* | Extension |
| code | Σ | 1..1 | CodeableConcept |
| value[x] | Σ | 0..1 | |
| valueQuantity | Quantity | ||
| valueCodeableConcept | CodeableConcept | ||
| valueString | string | ||
| valueBoolean | boolean | ||
| valueInteger | integer | ||
| valueRange | Range | ||
| valueRatio | Ratio | ||
| valueSampledData | SampledData | ||
| valueTime | time | ||
| valueDateTime | dateTime | ||
| valuePeriod | Period | ||
| dataAbsentReason | I | 0..1 | CodeableConceptBinding |
| interpretation | 0..* | CodeableConceptBinding | |
| referenceRange | 0..* | see (referenceRange) | |
| gene-studied | Σ | 0..* | BackboneElement |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| modifierExtension | Σ ?! I | 0..* | Extension |
| code | Σ | 1..1 | CodeableConcept |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| coding | Σ | 0..* | CodingPattern |
| text | Σ | 0..1 | string |
| value[x] | Σ | 0..1 | |
| (All Slices) | |||
| valueQuantity | Quantity | ||
| valueString | string | ||
| valueBoolean | boolean | ||
| valueInteger | integer | ||
| valueRange | Range | ||
| valueRatio | Ratio | ||
| valueSampledData | SampledData | ||
| valueTime | time | ||
| valueDateTime | dateTime | ||
| valuePeriod | Period | ||
| valueCodeableConcept | Σ | 0..1 | CodeableConceptBinding |
| dataAbsentReason | I | 0..1 | CodeableConceptBinding |
| interpretation | 0..* | CodeableConceptBinding | |
| referenceRange | 0..* | see (referenceRange) | |
| biomarker-category | S Σ | 0..* | BackboneElement |
| id | 0..1 | string | |
| extension | I | 0..* | Extension |
| modifierExtension | Σ ?! I | 0..* | Extension |
| code | Σ | 1..1 | CodeableConceptPattern |
| value[x] | Σ | 0..1 | Binding |
| valueCodeableConcept | CodeableConcept | ||
| dataAbsentReason | I | 0..1 | CodeableConceptBinding |
| interpretation | 0..* | CodeableConceptBinding | |
| referenceRange | 0..* | see (referenceRange) |
Beschreibt die BRCAness, also wie sehr ein Tumor ein Verhalten zeigt, welches BRCA1- oder BRCA2-Mutationen entspricht. Die BRCAness ist ein Indikator für die Wirksamkeit von PARP-Inhibitoren. |
| Feldname | Kurzbeschreibung |
|---|---|
| Observation.identifier | Biomarker-ID im Kontext des NGS-Befundes |
| Observation.category | |
| Observation.subject | |
| Observation.encounter | |
| Observation.value[x] | |
| Observation.value[x]:valueQuantity | |
| Observation.value[x]:valueQuantity.value | |
| Observation.interpretation | |
| Observation.specimen | |
| Observation.component |
<StructureDefinition xmlns="http://hl7.org/fhir"> <id value="mii-pr-mtb-brcaness" /> <url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness" /> <version value="2024.0.0-ballot" /> <name value="MII_PR_MTB_BRCAness" /> <title value="MII PR MTB BRCAness" /> <status value="draft" /> <publisher value="Medizininformatik Initiative" /> <contact> <telecom> <system value="url" /> <value value="https://www.medizininformatik-initiative.de" /> </telecom> </contact> <description value="Beschreibt die BRCAness, also wie sehr ein Tumor ein Verhalten zeigt, welches BRCA1- oder BRCA2-Mutationen entspricht. Die BRCAness ist ein Indikator für die Wirksamkeit von PARP-Inhibitoren." /> <fhirVersion value="4.0.1" /> <kind value="resource" /> <abstract value="false" /> <type value="Observation" /> <baseDefinition value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker" /> <derivation value="constraint" /> <differential> <element id="Observation.identifier"> <path value="Observation.identifier" /> <short value="Biomarker-ID im Kontext des NGS-Befundes" /> <definition value="Eindeutige Biomarker-ID im Kontext des NGS-Befundes." /> <mustSupport value="true" /> </element> <element id="Observation.category"> <path value="Observation.category" /> <mustSupport value="true" /> </element> <element id="Observation.code"> <path value="Observation.code" /> <short value="BRCAness" /> <definition value="BRCAness der Tumormutationsmuster" /> <patternCodeableConcept> <coding> <system value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker" /> <code value="brcaness" /> </coding> </patternCodeableConcept> </element> <element id="Observation.subject"> <path value="Observation.subject" /> <min value="1" /> <type> <code value="Reference" /> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Patient" /> <targetProfile value="http://hl7.org/fhir/StructureDefinition/Group" /> </type> <mustSupport value="true" /> </element> <element id="Observation.encounter"> <path value="Observation.encounter" /> <mustSupport value="true" /> </element> <element id="Observation.value[x]"> <path value="Observation.value[x]" /> <slicing> <discriminator> <type value="type" /> <path value="$this" /> </discriminator> <ordered value="false" /> <rules value="open" /> </slicing> <mustSupport value="true" /> </element> <element id="Observation.value[x]:valueQuantity"> <path value="Observation.value[x]" /> <sliceName value="valueQuantity" /> <min value="0" /> <max value="1" /> <type> <code value="Quantity" /> </type> <mustSupport value="true" /> </element> <element id="Observation.value[x]:valueQuantity.value"> <path value="Observation.value[x].value" /> <mustSupport value="true" /> </element> <element id="Observation.value[x]:valueQuantity.unit"> <path value="Observation.value[x].unit" /> <patternString value="Score" /> </element> <element id="Observation.value[x]:valueQuantity.system"> <path value="Observation.value[x].system" /> <patternUri value="http://unitsofmeasure.org" /> </element> <element id="Observation.value[x]:valueQuantity.code"> <path value="Observation.value[x].code" /> <patternCode value="1" /> </element> <element id="Observation.interpretation"> <path value="Observation.interpretation" /> <mustSupport value="true" /> <binding> <strength value="required" /> <valueSet value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs" /> </binding> </element> <element id="Observation.specimen"> <path value="Observation.specimen" /> <mustSupport value="true" /> </element> <element id="Observation.component"> <path value="Observation.component" /> <mustSupport value="true" /> </element> </differential> </StructureDefinition>
{ "resourceType": "StructureDefinition", "id": "mii-pr-mtb-brcaness", "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness", "version": "2024.0.0-ballot", "name": "MII_PR_MTB_BRCAness", "title": "MII PR MTB BRCAness", "status": "draft", "publisher": "Medizininformatik Initiative", "contact": [ { "telecom": [ { "system": "url", "value": "https://www.medizininformatik-initiative.de" } ] } ], "description": "Beschreibt die BRCAness, also wie sehr ein Tumor ein Verhalten zeigt, welches BRCA1- oder BRCA2-Mutationen entspricht. Die BRCAness ist ein Indikator für die Wirksamkeit von PARP-Inhibitoren.", "fhirVersion": "4.0.1", "kind": "resource", "abstract": false, "type": "Observation", "baseDefinition": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker", "derivation": "constraint", "differential": { "element": [ { "id": "Observation.identifier", "path": "Observation.identifier", "short": "Biomarker-ID im Kontext des NGS-Befundes", "definition": "Eindeutige Biomarker-ID im Kontext des NGS-Befundes.", "mustSupport": true }, { "id": "Observation.category", "path": "Observation.category", "mustSupport": true }, { "id": "Observation.code", "path": "Observation.code", "short": "BRCAness", "definition": "BRCAness der Tumormutationsmuster", "patternCodeableConcept": { "coding": [ { "code": "brcaness", "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker" } ] } }, { "id": "Observation.subject", "path": "Observation.subject", "min": 1, "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ] } ], "mustSupport": true }, { "id": "Observation.encounter", "path": "Observation.encounter", "mustSupport": true }, { "id": "Observation.value[x]", "path": "Observation.value[x]", "slicing": { "discriminator": [ { "type": "type", "path": "$this" } ], "ordered": false, "rules": "open" }, "mustSupport": true }, { "id": "Observation.value[x]:valueQuantity", "path": "Observation.value[x]", "sliceName": "valueQuantity", "min": 0, "max": "1", "type": [ { "code": "Quantity" } ], "mustSupport": true }, { "id": "Observation.value[x]:valueQuantity.value", "path": "Observation.value[x].value", "mustSupport": true }, { "id": "Observation.value[x]:valueQuantity.unit", "path": "Observation.value[x].unit", "patternString": "Score" }, { "id": "Observation.value[x]:valueQuantity.system", "path": "Observation.value[x].system", "patternUri": "http://unitsofmeasure.org" }, { "id": "Observation.value[x]:valueQuantity.code", "path": "Observation.value[x].code", "patternCode": "1" }, { "id": "Observation.interpretation", "path": "Observation.interpretation", "mustSupport": true, "binding": { "strength": "required", "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs" } }, { "id": "Observation.specimen", "path": "Observation.specimen", "mustSupport": true }, { "id": "Observation.component", "path": "Observation.component", "mustSupport": true } ] } }
Mapping Datensatz zu FHIR
Suchparameter
Folgende Suchparameter sind für das Modul Molekulares Tumorboard 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]/Observation?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness
Anwendungshinweise: Weitere Informationen zur Suche nach "_profile" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".
Der Suchparameter "category" MUSS unterstützt werden:
Beispiele:
GET [base]/Observation?category=http://terminology.hl7.org/CodeSystem/observation-category|laboratory
Anwendungshinweise: Weitere Informationen zur Suche nach "subject" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "subject" MUSS unterstützt werden:
Beispiele:
GET [base]/Observation?subject=Patient/example
Anwendungshinweise: Weitere Informationen zur Suche nach "subject" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "focus" MUSS unterstützt werden:
Beispiele:
GET [base]/Observation?focus=Condition/example
Anwendungshinweise: Weitere Informationen zur Suche nach "focus" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "encounter" MUSS unterstützt werden:
Beispiele:
GET [base]/Observation?encounter=Encounter/example
Anwendungshinweise: Weitere Informationen zur Suche nach "encounter" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Der Suchparameter "interpretation" MUSS unterstützt werden:
Beispiele:
GET [base]/Observation?interpretation=http://snomed.info/sct|55446002
Anwendungshinweise: Weitere Informationen zur Suche nach "interpretation" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".
Der Suchparameter "specimen" MUSS unterstützt werden:
Beispiele:
GET [base]/Observation?specimen=Specimen/example
Anwendungshinweise: Weitere Informationen zur Suche nach "specimen" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".
Beispiele
| Observation.id[0] | MII-EXA-MTB-BRCAness-1 |
| Observation.meta[0].profile[0] | https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness |
| Observation.status[0] | final |
| Observation.category[0].coding[0].system[0] | http://terminology.hl7.org/CodeSystem/observation-category |
| Observation.category[0].coding[0].code[0] | laboratory |
| Observation.category[1].coding[0].system[0] | http://terminology.hl7.org/CodeSystem/v2-0074 |
| Observation.category[1].coding[0].code[0] | GE |
| Observation.category[2].coding[0].system[0] | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs |
| Observation.category[2].coding[0].code[0] | biomarker-category |
| Observation.code[0].coding[0].system[0] | https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker |
| Observation.code[0].coding[0].code[0] | brcaness |
| Observation.code[0].coding[0].display[0] | BRCAness |
| Observation.subject[0].reference[0] | Patient/example |
| Observation.encounter[0].reference[0] | Encounter/example |
| Observation.interpretation[0].coding[0].system[0] | http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation |
| Observation.interpretation[0].coding[0].code[0] | H |
| Observation.interpretation[0].coding[0].display[0] | High |
| Observation.specimen[0].reference[0] | Specimen/example |
| Observation.component[0].code[0].coding[0].system[0] | http://loinc.org |
| Observation.component[0].code[0].coding[0].code[0] | 48018-6 |
| Observation.component[0].value[0].coding[0].code[0] | HGNC:1100 |
| Observation.component[0].value[0].coding[0].display[0] | BRCA1 |
{ "resourceType": "Observation", "id": "MII-EXA-MTB-BRCAness-1", "meta": { "profile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-brcaness" ] }, "category": [ { "coding": [ { "code": "laboratory", "system": "http://terminology.hl7.org/CodeSystem/observation-category" } ] }, { "coding": [ { "code": "GE", "system": "http://terminology.hl7.org/CodeSystem/v2-0074" } ] }, { "coding": [ { "code": "biomarker-category", "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" } ] } ], "interpretation": [ { "coding": [ { "code": "H", "system": "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation", "display": "High" } ] } ], "component": [ { "code": { "coding": [ { "code": "48018-6", "system": "http://loinc.org" } ] }, "valueCodeableConcept": { "coding": [ { "code": "HGNC:1100", "display": "BRCA1" } ] } } ], "code": { "coding": [ { "code": "brcaness", "system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker", "display": "BRCAness" } ] }, "status": "final", "subject": { "reference": "Patient/example" }, "encounter": { "reference": "Encounter/example" }, "specimen": { "reference": "Specimen/example" } }