FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Bundle |
| Id | Bundle-mii-exa-befund-bundle-1-braf.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
"resourceType": "Bundle",
"id": "mii-exa-befund-bundle-1-braf",
"type": "transaction",
"timestamp": "2022-07-14T12:11:00+01:00",
"entry": [
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-molekulargenetischer-befundbericht-1",
"resource": {
"resourceType": "DiagnosticReport",
"id": "mii-exa-molgen-molekulargenetischer-befundbericht-1",
"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/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
"valueReference": {
"reference": "Procedure/mii-exa-molgen-genomic-study-1"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/mii-exa-molgen-medikationsempfehlung-1"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/mii-exa-molgen-folgemassnahme-1"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-1"
}
}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-1"
}
],
"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"
},
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-1"
}
],
"result": [
{
"reference": "Observation/mii-exa-molgen-diagnostische-implikation-1"
},
{
"reference": "Observation/mii-exa-molgen-therapeutische-implikation-1"
},
{
"reference": "Observation/mii-exa-molgen-variante-1"
},
{
"reference": "Observation/mii-exa-molgen-genotyp-1"
},
{
"reference": "Observation/mii-exa-molgen-mutationslast-1"
},
{
"reference": "Observation/mii-exa-molgen-mikrosatelliteninstabilitaet-1"
}
],
"conclusion": "BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen."
},
"request": {
"method": "PUT",
"url": "DiagnosticReport/mii-exa-molgen-molekulargenetischer-befundbericht-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-medikationsempfehlung-1",
"resource": {
"resourceType": "Task",
"id": "mii-exa-molgen-medikationsempfehlung-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/medikationsempfehlung|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/medication-recommendation|3.0.0"
]
},
"basedOn": [
{
"reference": "servicerequest/example"
}
],
"status": "requested",
"intent": "proposal",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26421-0",
"display": "Consider alternative medication"
}
],
"text": "Alternative Medikation in Erwägung ziehen"
},
"for": {
"reference": "Patient/mii-exa-molgen-patient"
},
"reasonReference": {
"reference": "Observation/mii-exa-molgen-therapeutische-implikation-1"
}
},
"request": {
"method": "PUT",
"url": "Task/mii-exa-molgen-medikationsempfehlung-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-folgemassnahme-1",
"resource": {
"resourceType": "Task",
"id": "mii-exa-molgen-folgemassnahme-1",
"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/example"
}
],
"status": "requested",
"intent": "proposal",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA14020-4",
"display": "Genetic counseling recommended"
}
]
},
"description": "Genetische Beratung empfohlen mit Dr. Rosalind Franklin",
"for": {
"reference": "Patient/mii-exa-molgen-patient"
},
"reasonReference": {
"reference": "Observation/mii-exa-molgen-therapeutische-implikation-1"
}
},
"request": {
"method": "PUT",
"url": "Task/mii-exa-molgen-folgemassnahme-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-family-member-history-1",
"resource": {
"resourceType": "FamilyMemberHistory",
"id": "mii-exa-molgen-family-member-history-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/familienanamnese|2026.0.4"
]
},
"status": "completed",
"patient": {
"reference": "Patient/mii-exa-molgen-patient"
},
"date": "2022-04-07",
"relationship": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "72705000",
"display": "Mother (person)"
},
{
"system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
"code": "MTH",
"display": "mother"
}
]
},
"sex": {
"coding": [
{
"system": "http://hl7.org/fhir/administrative-gender",
"code": "female"
},
{
"system": "http://snomed.info/sct",
"code": "248152002",
"display": "Female (finding)"
}
]
},
"deceasedBoolean": true,
"reasonCode": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "447886005",
"display": "Adenocarcinoma of anorectum (disorder)"
}
]
}
],
"condition": [
{
"code": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "830150003",
"display": "Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder)"
}
]
},
"contributedToDeath": true
}
]
},
"request": {
"method": "PUT",
"url": "FamilyMemberHistory/mii-exa-molgen-family-member-history-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-1",
"resource": {
"resourceType": "ServiceRequest",
"id": "mii-exa-molgen-anforderung-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/anforderung-genetischer-test|2026.0.4"
]
},
"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)"
},
{
"system": "http://loinc.org",
"code": "53844-7",
"display": "BRAF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method"
},
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:1097",
"display": "BRAF"
}
],
"text": "BRAF: Exon 15 (Codon 600)"
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
},
"authoredOn": "2022-04-07",
"requester": {
"reference": "Practitioner/mii-exa-molgen-practitioner-physician"
},
"reasonCode": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "447886005",
"display": "Adenocarcinoma of anorectum (disorder)"
}
]
}
],
"supportingInfo": [
{
"reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-1"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-1"
}
]
},
"request": {
"method": "PUT",
"url": "ServiceRequest/mii-exa-molgen-anforderung-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-patient",
"resource": {
"resourceType": "Patient",
"id": "mii-exa-molgen-patient",
"identifier": [
{
"use": "usual",
"type": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0203",
"code": "MR"
}
]
},
"system": "https://www.medizininformatik-initiative.de/fhir/sid/patienten",
"value": "42285243",
"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": "Z234567890",
"assigner": {
"identifier": {
"use": "official",
"system": "http://fhir.de/sid/arge-ik/iknr",
"value": "109519005"
}
}
},
{
"use": "secondary",
"type": {
"coding": [
{
"system": "http://fhir.de/CodeSystem/identifier-type-de-basis",
"code": "PKV"
}
]
},
"value": "123456",
"assigner": {
"display": "Signal Iduna"
}
}
],
"name": [
{
"use": "official",
"family": "Van-der-Dussen",
"_family": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/humanname-own-name",
"valueString": "Van-der-Dussen"
}
]
},
"given": [
"Maja",
"Julia"
],
"prefix": [
"Prof. Dr. med."
],
"_prefix": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/iso21090-EN-qualifier",
"valueCode": "AC"
}
]
}
]
},
{
"use": "maiden",
"family": "Haffer"
}
],
"gender": "female",
"birthDate": "1968-09-19",
"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"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/example-mii-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/example-mii-molgen-specimen-1",
"resource": {
"resourceType": "Specimen",
"id": "mii-exa-molgen-specimen-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-biobank/StructureDefinition/SpecimenCore"
]
},
"identifier": [
{
"system": "https://biobank.uk-musterstadt.de/fhir/sid/proben",
"value": "5432"
}
],
"status": "available",
"type": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "128159001",
"display": "Tissue specimen from colon (specimen)"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
},
"collection": {
"collectedDateTime": "2022-03-24T12:44:00+01:00",
"bodySite": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "71854001",
"display": "Colon structure (body structure)"
}
]
}
}
},
"request": {
"method": "PUT",
"url": "Specimen/mii-exa-molgen-specimen-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-diagnostische-implikation-1",
"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"
},
"effectiveDateTime": "2022-04-07",
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"derivedFrom": [
{
"reference": "Observation/mii-exa-molgen-variante-1"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "conclusion-string"
}
]
},
"valueString": "Nachweis einer aktivierenden Mutation BRAF V600E"
}
]
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-diagnostische-implikation-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-therapeutische-implikation-1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-therapeutische-implikation-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/therapeutische-implikation|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-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": "therapeutic-implication",
"display": "Therapeutic Implication"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
},
"effectiveDateTime": "2022-04-07",
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"derivedFrom": [
{
"reference": "Observation/mii-exa-molgen-variante-1"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "conclusion-string"
}
]
},
"valueString": "Nachweis einer aktivierenden Mutation BRAF V600E. Triple-Therapie mit einem EGFR-Antikörper sowie einem BRAF- und einem MEK- Inhibitor prüfen."
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51963-7",
"display": "Medication assessed [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.whocc.no/atc",
"code": "L01EC",
"display": "B-Raf serine-threonine kinase (BRAF) inhibitors"
},
{
"system": "http://snomed.info/sct",
"code": "703645005",
"display": "Product containing B-Raf inhibitor (product)"
}
],
"text": "BRAF Inhibitor"
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51963-7",
"display": "Medication assessed [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.whocc.no/atc",
"code": "L01FE",
"display": "EGFR (Epidermal Growth Factor Receptor) inhibitors"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51963-7",
"display": "Medication assessed [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.whocc.no/atc",
"code": "L01EE",
"display": "Mitogen-activated protein kinase (MEK) inhibitors"
}
]
}
}
]
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-therapeutische-implikation-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-variante-1",
"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-1"
}
],
"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"
},
"effectiveDateTime": "2022-04-07",
"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-1"
},
"device": {
"reference": "Device/mii-exa-molgen-device-sequencer"
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:1097",
"display": "BRAF"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48013-7",
"display": "Genomic reference sequence [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NM_004333.4"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "47999-8",
"display": "DNA region name [Identifier]"
}
]
},
"valueString": "Exon #15"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "47999-8",
"display": "DNA region name [Identifier]"
}
]
},
"valueString": "Codon #582 - #612"
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_004333.4:c.1799T>A"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48005-3",
"display": "Amino acid change (pHGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "p.(Val600Glu)"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81258-6",
"display": "Sample variant allelic frequency [NFr]"
}
]
},
"valueQuantity": {
"value": 30.25,
"system": "http://unitsofmeasure.org",
"code": "%"
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48001-2",
"display": "Cytogenetic (chromosome) location"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "urn:oid:2.16.840.1.113883.6.335",
"code": "7q34"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48019-4",
"display": "DNA change type"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://sequenceontology.org",
"code": "SO:1000008",
"display": "point_mutation"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81252-9",
"display": "Discrete genetic variant"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/projects/SNP",
"code": "rs113488022"
}
]
}
}
]
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-variante-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-genotyp-1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-genotyp-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype|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://loinc.org",
"code": "84413-4",
"display": "Genotype display name"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
},
"effectiveDateTime": "2022-04-07",
"valueCodeableConcept": {
"text": "BRAF rs113488022 T>A"
},
"method": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
}
]
},
"specimen": {
"reference": "Specimen/mii-exa-molgen-specimen-1"
},
"device": {
"reference": "Device/mii-exa-molgen-device-sequencer"
},
"derivedFrom": [
{
"reference": "Observation/mii-exa-molgen-variante-1"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:1097",
"display": "BRAF"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48001-2",
"display": "Cytogenetic (chromosome) location"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "urn:oid:2.16.840.1.113883.6.335",
"code": "7q34"
}
]
}
}
]
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-genotyp-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-mutationslast-1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-mutationslast-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mutationslast|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/tmb|3.0.0"
]
},
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory",
"display": "Laboratory"
}
]
},
{
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "biomarker-category",
"display": "A characterization of a given biomarker observation."
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "94076-7",
"display": "Mutations/Megabase [# Ratio] in Tumor"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
},
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"valueQuantity": {
"value": 12,
"unit": "Mutations/Megabase",
"system": "http://unitsofmeasure.org",
"code": "1/1000000{Base}"
},
"specimen": {
"reference": "Specimen/mii-exa-molgen-specimen-1"
}
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-mutationslast-1"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer",
"resource": {
"resourceType": "Device",
"id": "mii-exa-molgen-device-sequencer",
"status": "active",
"manufacturer": "Illumina",
"deviceName": [
{
"name": "MiSeq",
"type": "manufacturer-name"
}
]
},
"request": {
"method": "PUT",
"url": "Device/mii-exa-molgen-device-sequencer"
}
},
{
"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-mikrosatelliteninstabilitaet-1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-mikrosatelliteninstabilitaet-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mikrosatelliteninstabilitaet|2026.0.4",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/msi|3.0.0"
]
},
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory",
"display": "Laboratory"
}
]
},
{
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "biomarker-category",
"display": "A characterization of a given biomarker observation."
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "81695-9",
"display": "Microsatellite instability [Interpretation] in Cancer specimen Qualitative"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient"
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA14122-8",
"display": "Stable"
}
]
},
"specimen": {
"reference": "Specimen/mii-exa-molgen-specimen-1"
}
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-mikrosatelliteninstabilitaet-1"
}
}
]
}