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{
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"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-befundbericht-1",
"resource": {
"resourceType": "DiagnosticReport",
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"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|3.0.0"
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"text": {
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"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"DiagnosticReport_mii-exa-molgen-befundbericht-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-1</b></p><a name=\"mii-exa-molgen-befundbericht-1\"> </a><a name=\"hcmii-exa-molgen-befundbericht-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-molekulargenetischer-befundbericht.html\">MII PR MolGen Molekulargenetischer Befundbericht</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html\">Genomic Report</a> version: 3.0.0</p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}\">Genetic analysis report</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</td></tr><tr><td>Performer</td><td> <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href=\"Observation-mii-exa-molgen-diagnostische-implikation-1.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></a></td><td/><td>Final</td><td>2022-04-07</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-therapeutische-implikation-1.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>Final</td><td>2022-04-07</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-variante-1.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></td><td>Final</td><td>2022-04-07</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-genotyp-1.html\"><span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></a></td><td><span title=\"Codes:\">BRAF rs113488022 T>A</span></td><td>Final</td><td>2022-04-07</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-mutationslast-1.html\"><span title=\"Codes:{http://loinc.org 94076-7}\">Mutations/Megabase [# Ratio] in Tumor</span></a></td><td>12 Mutations/Megabase<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')</span></td><td>Final</td><td/></tr><tr><td><a href=\"Observation-mii-exa-molgen-mikrosatelliteninstabilitaet-1.html\"><span title=\"Codes:{http://loinc.org 81695-9}\">Microsatellite instability [Interpretation] in Cancer specimen Qualitative</span></a></td><td><span title=\"Codes:{http://loinc.org LA14122-8}\">Stable</span></td><td>Final</td><td/></tr></table><p>BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen.</p></div></div>"
},
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{
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"valueReference": {
"reference": "Procedure/mii-exa-molgen-genomic-study-1"
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},
{
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"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"
}
},
{
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"valueReference": {
"reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-1"
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}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-1"
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],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE",
"display": "Genetics"
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}
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"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51969-4",
"display": "Genetic analysis report"
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},
"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-befundbericht-1"
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},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-medikationsempfehlung-1",
"resource": {
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},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Task_mii-exa-molgen-medikationsempfehlung-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Task mii-exa-molgen-medikationsempfehlung-1</b></p><a name=\"mii-exa-molgen-medikationsempfehlung-1\"> </a><a name=\"hcmii-exa-molgen-medikationsempfehlung-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-medikationsempfehlung.html\">MII PR MolGen Medikationsempfehlung</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-medication-recommendation.html\">Medication Recommendation</a> version: 3.0.0</p></div><p><b>basedOn</b>: <a href=\"ServiceRequest-mii-exa-molgen-anforderung-1.html\">ServiceRequest Molecular genetic test (procedure)</a></p><p><b>status</b>: Requested</p><p><b>intent</b>: proposal</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org LA26421-0}\">Alternative Medikation in Erwägung ziehen</span></p><p><b>for</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>reasonReference</b>: <a href=\"Observation-mii-exa-molgen-therapeutische-implikation-1.html\">Observation Therapeutic Implication</a></p></div></div>"
},
"basedOn": [
{
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],
"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|2027.0.0-ballot.1",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/followup-recommendation|3.0.0"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Task_mii-exa-molgen-folgemassnahme-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Task mii-exa-molgen-folgemassnahme-1</b></p><a name=\"mii-exa-molgen-folgemassnahme-1\"> </a><a name=\"hcmii-exa-molgen-folgemassnahme-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-empfohlene-folgemassnahme.html\">MII PR MolGen Empfohlene Folgemaßnahme</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-followup-recommendation.html\">Followup Recommendation</a> version: 3.0.0</p></div><p><b>basedOn</b>: <a href=\"ServiceRequest-mii-exa-molgen-anforderung-1.html\">ServiceRequest Molecular genetic test (procedure)</a></p><p><b>status</b>: Requested</p><p><b>intent</b>: proposal</p><p><b>code</b>: <span title=\"Codes:{http://loinc.org LA14020-4}\">Genetic counseling recommended</span></p><p><b>description</b>: Genetische Beratung empfohlen mit Dr. Rosalind Franklin</p><p><b>for</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>reasonReference</b>: <a href=\"Observation-mii-exa-molgen-therapeutische-implikation-1.html\">Observation Therapeutic Implication</a></p></div></div>"
},
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-1"
}
],
"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|2027.0.0-ballot.1"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"FamilyMemberHistory_mii-exa-molgen-family-member-history-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: FamilyMemberHistory mii-exa-molgen-family-member-history-1</b></p><a name=\"mii-exa-molgen-family-member-history-1\"> </a><a name=\"hcmii-exa-molgen-family-member-history-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-mii-pr-molgen-familienanamnese.html\">MII PR MolGen Familienanamnese</a> version: 2027.0.0-ballot.1</p></div><p><b>status</b>: Completed</p><p><b>patient</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>date</b>: 2022-04-07</p><p><b>relationship</b>: <span title=\"Codes:{http://snomed.info/sct 72705000}, {http://terminology.hl7.org/CodeSystem/v3-RoleCode MTH}\">Mother (person)</span></p><p><b>sex</b>: <span title=\"Codes:{http://hl7.org/fhir/administrative-gender female}, {http://snomed.info/sct 248152002}\">Female (finding)</span></p><p><b>deceased</b>: true</p><p><b>reasonCode</b>: <span title=\"Codes:{http://snomed.info/sct 447886005}\">Adenocarcinoma of anorectum (disorder)</span></p><h3>Conditions</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>ContributedToDeath</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://snomed.info/sct 830150003}\">Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder)</span></td><td>true</td></tr></table></div></div>"
},
"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"
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},
{
"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|2027.0.0-ballot.1"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"ServiceRequest_mii-exa-molgen-anforderung-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-1</b></p><a name=\"mii-exa-molgen-anforderung-1\"> </a><a name=\"hcmii-exa-molgen-anforderung-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-mii-pr-molgen-anforderung-genetischer-test.html\">MII PR MolGen Anforderung genetischer Test</a> version: 2027.0.0-ballot.1</p></div><p><b>status</b>: Active</p><p><b>intent</b>: Order</p><p><b>category</b>: <span title=\"Codes:{http://snomed.info/sct 108252007}\">Laboratory procedure (procedure)</span></p><p><b>code</b>: <span title=\"Codes:{http://snomed.info/sct 405825005}, {http://loinc.org 53844-7}, {http://www.genenames.org/geneId HGNC:1097}\">BRAF: Exon 15 (Codon 600)</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>authoredOn</b>: 2022-04-07</p><p><b>requester</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-physician.html\">Practitioner Dr. Linda Rubens(official)</a></p><p><b>reasonCode</b>: <span title=\"Codes:{http://snomed.info/sct 447886005}\">Adenocarcinoma of anorectum (disorder)</span></p><p><b>supportingInfo</b>: <a href=\"FamilyMemberHistory-mii-exa-molgen-family-member-history-1.html\">FamilyMemberHistory: status = completed; date = 2022-04-07; relationship = Mother (person); sex = Female (finding); deceased[x] = true; reasonCode = Adenocarcinoma of anorectum (disorder)</a></p><p><b>specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-1.html\">Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)</a></p></div></div>"
},
"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)"
}
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}
],
"supportingInfo": [
{
"reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-1"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-1"
}
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"method": "PUT",
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{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/example-mii-molgen-patient",
"resource": {
"resourceType": "Patient",
"id": "mii-exa-molgen-patient",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Patient_mii-exa-molgen-patient\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient mii-exa-molgen-patient</b></p><a name=\"mii-exa-molgen-patient\"> </a><a name=\"hcmii-exa-molgen-patient\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</p><hr/><table class=\"grid\"><tr><td style=\"background-color: #f3f5da\" title=\"Known status of Patient\">Deceased:</td><td colspan=\"3\">false</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Other Ids (see the one above)\">Other Ids:</td><td colspan=\"3\"><ul><li>Gesetzliche Krankenversicherung/Z234567890 (use: official, )</li><li>Private Krankenversicherung/123456 (use: secondary, )</li></ul></td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Alternate names (see the one above)\">Alt. Name:</td><td colspan=\"3\">Haffer (Name changed for Marriage)</td></tr><tr><td style=\"background-color: #f3f5da\" title=\"Ways to contact the Patient\">Contact Detail</td><td colspan=\"3\">Anna-Louisa-Karsch Str. 2 Berlin DE-BE 10178 DE </td></tr></table></div></div>"
},
"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",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Practitioner_mii-exa-molgen-practitioner-lab\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Practitioner mii-exa-molgen-practitioner-lab</b></p><a name=\"mii-exa-molgen-practitioner-lab\"> </a><a name=\"hcmii-exa-molgen-practitioner-lab\"> </a><p><b>active</b>: true</p><p><b>name</b>: Dr. Daniel Schmidt(Official)</p></div></div>"
},
"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"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Specimen_mii-exa-molgen-specimen-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-1</b></p><a name=\"mii-exa-molgen-specimen-1\"> </a><a name=\"hcmii-exa-molgen-specimen-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"file:///home/runner/work/kerndatensatzmodul-biobank/kerndatensatzmodul-biobank/output/StructureDefinition-mii-pr-biobank-specimen-core.html\">MII PR Biobank Specimen Bioprobe Core</a></p></div><p><b>identifier</b>: <code>https://biobank.uk-musterstadt.de/fhir/sid/proben</code>/5432</p><p><b>status</b>: Available</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 128159001}\">Tissue specimen from colon (specimen)</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collected[x]</b></td><td><b>BodySite</b></td></tr><tr><td style=\"display: none\">*</td><td>2022-03-24 12:44:00+0100</td><td><span title=\"Codes:{http://snomed.info/sct 71854001}\">Colon structure (body structure)</span></td></tr></table></div></div>"
},
"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|2027.0.0-ballot.1",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication|3.0.0"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-diagnostische-implikation-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-1</b></p><a name=\"mii-exa-molgen-diagnostische-implikation-1\"> </a><a name=\"hcmii-exa-molgen-diagnostische-implikation-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-diagnostische-implikation.html\">MII PR MolGen Diagnostische Implikation</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a> version: 3.0.0</p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>effective</b>: 2022-04-07</p><p><b>performer</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-1.html\">Observation Genetic variant assessment</a></p><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></td><td>Nachweis einer aktivierenden Mutation BRAF V600E</td></tr></table></div></div>"
},
"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|2027.0.0-ballot.1",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication|3.0.0"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-therapeutische-implikation-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-therapeutische-implikation-1</b></p><a name=\"mii-exa-molgen-therapeutische-implikation-1\"> </a><a name=\"hcmii-exa-molgen-therapeutische-implikation-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-therapeutische-implikation.html\">MII PR MolGen Therapeutische Implikation</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a> version: 3.0.0</p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>effective</b>: 2022-04-07</p><p><b>performer</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-1.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}\">Conclusion Text</span></p><p><b>value</b>: Nachweis einer aktivierenden Mutation BRAF V600E. Triple-Therapie mit einem EGFR-Antikörper sowie einem BRAF- und einem MEK- Inhibitor prüfen.</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51963-7}\">Medication assessed [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.whocc.no/atc L01EC}, {http://snomed.info/sct 703645005}\">BRAF Inhibitor</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51963-7}\">Medication assessed [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.whocc.no/atc L01FE}\">EGFR (Epidermal Growth Factor Receptor) inhibitors</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51963-7}\">Medication assessed [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.whocc.no/atc L01EE}\">Mitogen-activated protein kinase (MEK) inhibitors</span></p></blockquote></div></div>"
},
"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|2027.0.0-ballot.1",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"
]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-variante-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-variante-1</b></p><a name=\"mii-exa-molgen-variante-1\"> </a><a name=\"hcmii-exa-molgen-variante-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-variante.html\">MII PR MolGen Variante</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-variant.html\">Variant</a> version: 3.0.0</p></div><p><b>basedOn</b>: <a href=\"ServiceRequest-mii-exa-molgen-anforderung-1.html\">ServiceRequest Molecular genetic test (procedure)</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>effective</b>: 2022-04-07</p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-1.html\">Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)</a></p><p><b>device</b>: <a href=\"Device-mii-exa-molgen-device-sequencer.html\">Device: status = active; manufacturer = Illumina</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1097}\">BRAF</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_004333.4}\">NM_004333.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 47999-8}\">DNA region name [Identifier]</span></p><p><b>value</b>: Exon #15</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 47999-8}\">DNA region name [Identifier]</span></p><p><b>value</b>: Codon #582 - #612</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_004333.4:c.1799T>A}\">NM_004333.4:c.1799T>A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org p.(Val600Glu)}\">p.(Val600Glu)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 30.25 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48001-2}\">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title=\"Codes:{urn:oid:2.16.840.1.113883.6.335 7q34}\">7q34</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://sequenceontology.org SO:1000008}\">point_mutation</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/projects/SNP rs113488022}\">rs113488022</span></p></blockquote></div></div>"
},
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{
"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",
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}
]
},
"specimen": {
"reference": "Specimen/mii-exa-molgen-specimen-1"
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"device": {
"reference": "Device/mii-exa-molgen-device-sequencer"
},
"component": [
{
"code": {
"coding": [
{
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"code": "48018-6",
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},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:1097",
"display": "BRAF"
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}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48013-7",
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},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NM_004333.4"
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}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "47999-8",
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}
]
},
"valueString": "Exon #15"
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{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "47999-8",
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]
},
"valueString": "Codon #582 - #612"
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{
"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"
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}
}
]
},
"request": {
"method": "PUT",
"url": "Observation/mii-exa-molgen-variante-1"
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},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-genotyp-1",
"resource": {
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]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-genotyp-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-genotyp-1</b></p><a name=\"mii-exa-molgen-genotyp-1\"> </a><a name=\"hcmii-exa-molgen-genotyp-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-genotyp.html\">MII PR MolGen Genotyp</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genotype.html\">Genotype</a> version: 3.0.0</p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>effective</b>: 2022-04-07</p><p><b>value</b>: <span title=\"Codes:\">BRAF rs113488022 T>A</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><p><b>specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-1.html\">Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)</a></p><p><b>device</b>: <a href=\"Device-mii-exa-molgen-device-sequencer.html\">Device: status = active; manufacturer = Illumina</a></p><p><b>derivedFrom</b>: <a href=\"Observation-mii-exa-molgen-variante-1.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1097}\">BRAF</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48001-2}\">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title=\"Codes:{urn:oid:2.16.840.1.113883.6.335 7q34}\">7q34</span></p></blockquote></div></div>"
},
"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|2027.0.0-ballot.1",
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]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-mutationslast-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-mutationslast-1</b></p><a name=\"mii-exa-molgen-mutationslast-1\"> </a><a name=\"hcmii-exa-molgen-mutationslast-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-mutationslast.html\">MII PR MolGen Mutationslast</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-molecular-biomarker.html\">Molecular Biomarker</a> version: 3.0.0</p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs biomarker-category}\">A characterization of a given biomarker observation.</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 94076-7}\">Mutations/Megabase [# Ratio] in Tumor</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>performer</b>: <a href=\"Practitioner-mii-exa-molgen-practitioner-lab.html\">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>value</b>: 12 Mutations/Megabase<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')</span></p><p><b>specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-1.html\">Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)</a></p></div></div>"
},
"status": "final",
"category": [
{
"coding": [
{
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"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}"
},
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"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",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Device_mii-exa-molgen-device-sequencer\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Device mii-exa-molgen-device-sequencer</b></p><a name=\"mii-exa-molgen-device-sequencer\"> </a><a name=\"hcmii-exa-molgen-device-sequencer\"> </a><p><b>status</b>: Active</p><p><b>manufacturer</b>: Illumina</p><h3>DeviceNames</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Name</b></td><td><b>Type</b></td></tr><tr><td style=\"display: none\">*</td><td>MiSeq</td><td>Manufacturer name</td></tr></table></div></div>"
},
"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",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Practitioner_mii-exa-molgen-practitioner-physician\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Practitioner mii-exa-molgen-practitioner-physician</b></p><a name=\"mii-exa-molgen-practitioner-physician\"> </a><a name=\"hcmii-exa-molgen-practitioner-physician\"> </a><p><b>active</b>: true</p><p><b>name</b>: Dr. Linda Rubens(Official)</p></div></div>"
},
"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|2027.0.0-ballot.1",
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]
},
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><div xml:lang=\"en\" lang=\"en\"><hr/><p><b>English</b></p><hr/><a name=\"Observation_mii-exa-molgen-mikrosatelliteninstabilitaet-1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-mikrosatelliteninstabilitaet-1</b></p><a name=\"mii-exa-molgen-mikrosatelliteninstabilitaet-1\"> </a><a name=\"hcmii-exa-molgen-mikrosatelliteninstabilitaet-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profiles: <a href=\"StructureDefinition-mii-pr-molgen-mikrosatelliteninstabilitaet.html\">MII PR MolGen Mikrosatelliteninstabilität</a> version: 2027.0.0-ballot.1, <a href=\"http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-molecular-biomarker.html\">Molecular Biomarker</a> version: 3.0.0</p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs biomarker-category}\">A characterization of a given biomarker observation.</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81695-9}\">Microsatellite instability [Interpretation] in Cancer specimen Qualitative</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient.html\">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA14122-8}\">Stable</span></p><p><b>specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-1.html\">Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)</a></p></div></div>"
},
"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"
}
}
]
}