FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Bundle |
| Id | Bundle-mii-exa-molgen-bundle-fam-his-breast-ovar-can.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
"resourceType": "Bundle",
"id": "mii-exa-molgen-bundle-fam-his-breast-ovar-can",
"type": "transaction",
"timestamp": "2022-11-04T13:47:00+01:00",
"entry": [
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-patient-brca1",
"resource": {
"resourceType": "Patient",
"id": "mii-exa-molgen-patient-brca1",
"identifier": [
{
"use": "usual",
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "MR"
}
]
},
"system": "https://www.charite.de/fhir/sid/patienten",
"value": "9166147031",
"assigner": {
"identifier": {
"system": "https://www.medizininformatik-initiative.de/fhir/core/CodeSystem/core-location-identifier",
"value": "Charité"
},
"display": "Charité - Universitätsmedizin Berlin"
}
},
{
"use": "official",
"type": {
"coding": [
{
"system": "http://fhir.de/CodeSystem/identifier-type-de-basis",
"code": "GKV"
}
]
},
"system": "http://fhir.de/sid/gkv/kvid-10",
"value": "Z977188448",
"assigner": {
"identifier": {
"use": "official",
"system": "http://fhir.de/sid/arge-ik/iknr",
"value": "109519005"
}
}
}
],
"name": [
{
"use": "official",
"family": "Schmidt-Huber",
"_family": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/humanname-own-name",
"valueString": "Schmidt"
}
]
},
"given": [
"Elisa"
]
}
],
"gender": "female",
"birthDate": "1973-03-12",
"deceasedBoolean": false,
"address": [
{
"type": "both",
"line": [
"Anna-Louisa-Karsch Str. 2"
],
"city": "Berlin",
"state": "DE-BE",
"postalCode": "10178",
"country": "DE"
}
]
},
"request": {
"method": "PUT",
"url": "Patient/mii-exa-molgen-patient-brca1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-molekulargenetischer-befundbericht-trurisk-panel",
"resource": {
"resourceType": "DiagnosticReport",
"id": "mii-exa-molgen-molekulargenetischer-befundbericht-trurisk-panel",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"
]
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008 Nov;29(11):1282-91. doi: 10.1002/humu.20880. PMID: 18951446; PMCID: PMC3075918.",
"url": "https://doi.org/10.1002/humu.20880"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact",
"valueRelatedArtifact": {
"type": "citation",
"citation": "Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, Grill S, Hahnen E, Horvath J, Jaeger B, Kast K, Kiechle M, Leinert E, Morlot S, Püsken M, Schäfer D, Schott S, Schroeder C, Siebers-Renelt U, Solbach C, Weber-Lassalle N, Witzel I, Zeder-Göß C, Schmutzler RK. Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer. Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19. PMID: 35702495; PMCID: PMC9149395.",
"url": "https://doi.org/10.1159%2F000516376"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
"valueReference": {
"reference": "Procedure/mii-exa-molgen-genomic-study-trurisk-panel"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/mii-exa-molgen-folgemassnahme-brca1"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment",
"valueReference": {
"reference": "RiskAssessment/mii-exa-molgen-prs-brca1"
}
}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-trurisk-panel"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51969-4",
"display": "Genetic analysis report"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-brca1"
},
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-brca1"
}
],
"result": [
{
"reference": "Observation/mii-exa-molgen-variante-brca1"
},
{
"reference": "Observation/mii-exa-molgen-diagnostische-implikation-brca1"
}
],
"conclusion": "Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt."
},
"request": {
"method": "PUT",
"url": "DiagnosticReport/mii-exa-molgen-molekulargenetischer-befundbericht-trurisk-panel"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-folgemassnahme-brca1",
"resource": {
"resourceType": "Task",
"id": "mii-exa-molgen-folgemassnahme-brca1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/empfohlene-folgemassnahme|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/followup-recommendation|3.0.0"
]
},
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-trurisk-panel"
}
],
"status": "requested",
"intent": "proposal",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA14020-4",
"display": "Genetic counseling recommended"
}
]
},
"description": "Eine genetische Beratung hinsichtlich einer gezielten Testung leiblicher Familienmitglieder wird empfohlen.",
"for": {
"reference": "Patient/mii-exa-molgen-patient-brca1"
}
},
"request": {
"method": "PUT",
"url": "Task/mii-exa-molgen-folgemassnahme-brca1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-prs-brca1",
"resource": {
"resourceType": "RiskAssessment",
"id": "mii-exa-molgen-prs-brca1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/polygener-risiko-score|2026.0.4"
]
},
"status": "final",
"subject": {
"reference": "Patient/mii-exa-molgen-patient-2"
},
"occurrenceDateTime": "2022-11-01",
"basis": [
{
"reference": "Observation/mii-exa-molgen-variante-brca1"
}
],
"prediction": [
{
"extension": [
{
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/risk-assessment-einflussfaktor",
"valueCodeableConcept": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "414152003",
"display": "European (ethnic group)"
}
],
"text": "Der verwendete Polygene Risikoscore wurde bisher nur für die europäische Bevölkerung bei Brustkrebs validiert."
}
}
],
"outcome": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "718220008",
"display": "Hereditary breast and ovarian cancer syndrome (disorder)"
}
]
},
"qualitativeRisk": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/risk-probability",
"code": "high",
"display": "High likelihood"
}
]
}
}
]
},
"request": {
"method": "PUT",
"url": "RiskAssessment/mii-exa-molgen-prs-brca1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-trurisk-panel",
"resource": {
"resourceType": "ServiceRequest",
"id": "mii-exa-molgen-anforderung-trurisk-panel",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2026.0.4"
]
},
"identifier": [
{
"system": "https://www.charite.de/fhir/auftragsnummern",
"value": "gen_test_03"
}
],
"status": "active",
"intent": "order",
"category": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "108252007",
"display": "Laboratory procedure (procedure)"
}
]
}
],
"code": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "405825005",
"display": "Molecular genetic test (procedure)"
}
],
"text": "Panelanalyse TruRisk®-V3 mit NGS basierter CNV-Analyse Bestimmung des Polygenen Risikoscores (PRS) für Brustkrebs"
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-brca1"
},
"authoredOn": "2022-11-01",
"requester": {
"reference": "Practitioner/mii-exa-molgen-practitioner-physician"
},
"reasonCode": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "429740004",
"display": "Family history of malignant neoplasm of breast (situation)"
}
]
},
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "430705002",
"display": "Family history of malignant neoplasm of ovary (situation)"
}
]
},
{
"coding": [
{
"system": "http://www.orpha.net",
"code": "145",
"display": "Hereditary breast and/or ovarian cancer syndrome"
}
]
},
{
"coding": [
{
"system": "http://www.omim.org",
"code": "604370",
"display": "BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1"
}
]
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-brca1"
}
]
},
"request": {
"method": "PUT",
"url": "ServiceRequest/mii-exa-molgen-anforderung-trurisk-panel"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-lab",
"resource": {
"resourceType": "Practitioner",
"id": "mii-exa-molgen-practitioner-lab",
"active": true,
"name": [
{
"use": "official",
"text": "Dr. Daniel Schmidt",
"family": "Schmidt",
"given": [
"Daniel"
],
"prefix": [
"Dr."
]
}
]
},
"request": {
"method": "PUT",
"url": "Practitioner/mii-exa-molgen-practitioner-lab"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-physician",
"resource": {
"resourceType": "Practitioner",
"id": "mii-exa-molgen-practitioner-physician",
"active": true,
"name": [
{
"use": "official",
"text": "Dr. Linda Rubens",
"family": "Rubens",
"given": [
"Linda"
],
"prefix": [
"Dr."
]
}
]
},
"request": {
"method": "PUT",
"url": "Practitioner/mii-exa-molgen-practitioner-physician"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-specimen-brca1",
"resource": {
"resourceType": "Specimen",
"id": "mii-exa-molgen-specimen-brca1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-biobank/StructureDefinition/SpecimenCore"
]
},
"identifier": [
{
"system": "https://www.charite.de/fhir/sid/bioproben",
"value": "specimen_03"
}
],
"status": "available",
"type": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "127457009",
"display": "Tissue specimen from breast (specimen)"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-brca1"
},
"receivedTime": "2022-11-01",
"collection": {
"collectedDateTime": "2022-11-01"
}
},
"request": {
"method": "PUT",
"url": "Specimen/mii-exa-molgen-specimen-brca1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer-nextseq",
"resource": {
"resourceType": "Device",
"id": "mii-exa-molgen-device-sequencer-nextseq",
"status": "active",
"manufacturer": "Illumina",
"deviceName": [
{
"name": "NextSeq",
"type": "manufacturer-name"
}
]
},
"request": {
"method": "PUT",
"url": "Device/mii-exa-molgen-device-sequencer-nextseq"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-brca1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-variante-brca1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"
]
},
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-trurisk-panel"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory",
"display": "Laboratory"
}
]
},
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "69548-6",
"display": "Genetic variant assessment"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-brca1"
},
"effectiveDateTime": "2022-11-01",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"method": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
}
]
},
"specimen": {
"reference": "Specimen/mii-exa-molgen-specimen-brca1"
},
"device": {
"reference": "Device/mii-exa-molgen-device-sequencer-nextseq"
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:1100",
"display": "BRCA1"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48001-2"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "urn:oid:2.16.840.1.113883.6.335",
"code": "17q21.31"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_007294.3:c.5266dupC"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51958-7"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NM_007294.3"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48019-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://sequenceontology.org",
"code": "SO:1000035",
"display": "Duplication"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "82121-5"
}
]
},
"valueQuantity": {
"value": 50,
"unit": "Abdeckung der Fragmente",
"system": "http://unitsofmeasure.org",
"code": "1"
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81252-9"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/projects/SNP",
"code": "rs80357906"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48000-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA21270-6",
"display": "Chromosome 17"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48005-3"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "p.Gln1756Profs"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "87706-8"
}
]
},
"valueQuantity": {
"value": 95,
"comparator": ">",
"unit": "%",
"system": "http://unitsofmeasure.org",
"code": "%"
}
}
]
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-variante-brca1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-brca1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-diagnostische-implikation-brca1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication|3.0.0"
]
},
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory",
"display": "Laboratory"
}
]
},
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE"
}
]
}
],
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "diagnostic-implication",
"display": "Diagnostic Implication"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-brca1"
},
"effectiveDateTime": "2022-11-01",
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"derivedFrom": [
{
"reference": "Observation/mii-exa-molgen-variante-brca1"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "conclusion-string"
}
]
},
"valueString": "Nachweis heterozygoter Sequenzveränderung, die zum Funktionsverlust führt"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6668-3",
"display": "Pathogenic"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81259-4"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://human-phenotype-ontology.org",
"code": "HP:0003002",
"display": "Breast carcinoma"
},
{
"system": "http://human-phenotype-ontology.org",
"code": "HP:0100615",
"display": "Ovarian neoplasm"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "93044-6"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs",
"code": "2-star",
"display": "2 star"
}
]
}
}
]
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-diagnostische-implikation-brca1"
}
}
]
}