FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Bundle |
| Id | Bundle-mii-exa-befund-bundle-befund-srcc.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-befund-srcc",
"type": "transaction",
"timestamp": "2022-12-16T10:09:00+01:00",
"entry": [
{
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"id": "mii-exa-molgen-patient-srcc",
"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-srcc\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Patient mii-exa-molgen-patient-srcc</b></p><a name=\"mii-exa-molgen-patient-srcc\"> </a><a name=\"hcmii-exa-molgen-patient-srcc\"> </a><p style=\"border: 1px #661aff solid; background-color: #e6e6ff; padding: 10px;\">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (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=\"Ways to contact the Patient\">Contact Detail</td><td colspan=\"3\">10 DE </td></tr></table></div></div>"
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"gender": "male",
"birthDate": "1986-01",
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"address": [
{
"type": "both",
"postalCode": "10",
"country": "DE"
}
]
},
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},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-lab",
"resource": {
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"id": "mii-exa-molgen-practitioner-lab",
"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=\"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": [
{
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"Daniel"
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"Dr."
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}
]
},
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"method": "PUT",
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}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-practitioner-physician",
"resource": {
"resourceType": "Practitioner",
"id": "mii-exa-molgen-practitioner-physician",
"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=\"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-specimen-srcc",
"resource": {
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"id": "mii-exa-molgen-specimen-srcc",
"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-srcc\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-srcc</b></p><a name=\"mii-exa-molgen-specimen-srcc\"> </a><a name=\"hcmii-exa-molgen-specimen-srcc\"> </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://www.charite.de/fhir/sid/bioproben</code>/00070024</p><p><b>status</b>: Available</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 445295009}\">Blood specimen with edetic acid (specimen)</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient-srcc.html\">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</a></p><p><b>receivedTime</b>: 2022-11-30</p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collected[x]</b></td></tr><tr><td style=\"display: none\">*</td><td>2022-11-30</td></tr></table></div></div>"
},
"identifier": [
{
"system": "https://www.charite.de/fhir/sid/bioproben",
"value": "00070024"
}
],
"status": "available",
"type": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "445295009",
"display": "Blood specimen with edetic acid (specimen)"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-srcc"
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"receivedTime": "2022-11-30",
"collection": {
"collectedDateTime": "2022-11-30"
}
},
"request": {
"method": "PUT",
"url": "Specimen/mii-exa-molgen-specimen-srcc"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-specimen-srcc-2",
"resource": {
"resourceType": "Specimen",
"id": "mii-exa-molgen-specimen-srcc-2",
"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-srcc-2\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Specimen mii-exa-molgen-specimen-srcc-2</b></p><a name=\"mii-exa-molgen-specimen-srcc-2\"> </a><a name=\"hcmii-exa-molgen-specimen-srcc-2\"> </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://www.charite.de/fhir/sid/bioproben</code>/00070025</p><p><b>status</b>: Available</p><p><b>type</b>: <span title=\"Codes:{http://snomed.info/sct 445295009}\">Blood specimen with edetic acid (specimen)</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient-srcc.html\">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</a></p><p><b>receivedTime</b>: 2022-11-30</p><h3>Collections</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Collected[x]</b></td></tr><tr><td style=\"display: none\">*</td><td>2022-11-30</td></tr></table></div></div>"
},
"identifier": [
{
"system": "https://www.charite.de/fhir/sid/bioproben",
"value": "00070025"
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],
"status": "available",
"type": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "445295009",
"display": "Blood specimen with edetic acid (specimen)"
}
]
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-srcc"
},
"receivedTime": "2022-11-30",
"collection": {
"collectedDateTime": "2022-11-30"
}
},
"request": {
"method": "PUT",
"url": "Specimen/mii-exa-molgen-specimen-srcc-2"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-befundbericht-srcc",
"resource": {
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"id": "mii-exa-molgen-befundbericht-srcc",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2027.0.0-ballot.1",
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|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=\"DiagnosticReport_mii-exa-molgen-befundbericht-srcc\"> </a><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-srcc</b></p><a name=\"mii-exa-molgen-befundbericht-srcc\"> </a><a name=\"hcmii-exa-molgen-befundbericht-srcc\"> </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>Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (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-srcc-ctnna1.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>2022-11-30</td></tr><tr><td><a href=\"Observation-mii-exa-molgen-variante-srcc-ctnna1.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>2022-11-30</td></tr></table><p>Nachweis der pathogenen Variante im CTNNA1-Gen.</p></div></div>"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo",
"valueReference": {
"reference": "FamilyMemberHistory/mii-exa-molgen-family-member-history-srcc"
}
}
],
"basedOn": [
{
"reference": "ServiceRequest/mii-exa-molgen-anforderung-srcc"
}
],
"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-srcc"
},
"performer": [
{
"reference": "Practitioner/mii-exa-molgen-practitioner-lab"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-srcc"
},
{
"reference": "Specimen/mii-exa-molgen-specimen-srcc-2"
}
],
"result": [
{
"reference": "Observation/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"
},
{
"reference": "Observation/mii-exa-molgen-variante-srcc-ctnna1"
}
],
"conclusion": "Nachweis der pathogenen Variante im CTNNA1-Gen."
},
"request": {
"method": "PUT",
"url": "DiagnosticReport/mii-exa-molgen-befundbericht-srcc"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-anforderung-srcc",
"resource": {
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"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-srcc\"> </a><p class=\"res-header-id\"><b>Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-srcc</b></p><a name=\"mii-exa-molgen-anforderung-srcc\"> </a><a name=\"hcmii-exa-molgen-anforderung-srcc\"> </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>identifier</b>: <code>https://www.charite.de/fhir/auftragsnummern</code>/7B369EB0</p><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}\">Molekulargenetische Untersuchung (Stufendiagnostik) der relevanten Gene</span></p><p><b>subject</b>: <a href=\"Patient-mii-exa-molgen-patient-srcc.html\">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</a></p><p><b>authoredOn</b>: 2022-11-30</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 87737001}, {http://fhir.de/CodeSystem/bfarm/icd-10-gm C16.9}\">Eigenanamnese: Siegelringkarzinom des Magens, diffus wachsend</span>, <span title=\"Codes:{http://snomed.info/sct 429740004}\">Mutter an Brustkrebs verstorben</span></p><p><b>specimen</b>: <a href=\"Specimen-mii-exa-molgen-specimen-srcc.html\">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#00070024; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2022-11-30</a></p></div></div>"
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{
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"value": "7B369EB0"
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],
"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": "Molekulargenetische Untersuchung (Stufendiagnostik) der relevanten Gene"
},
"subject": {
"reference": "Patient/mii-exa-molgen-patient-srcc"
},
"authoredOn": "2022-11-30",
"requester": {
"reference": "Practitioner/mii-exa-molgen-practitioner-physician"
},
"reasonCode": [
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "87737001",
"display": "Signet ring cell carcinoma"
},
{
"system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm",
"version": "2024",
"code": "C16.9",
"display": "Bösartige Neubildung: Magen, nicht näher bezeichnet"
}
],
"text": "Eigenanamnese: Siegelringkarzinom des Magens, diffus wachsend"
},
{
"coding": [
{
"system": "http://snomed.info/sct",
"code": "429740004",
"display": "Family history of malignant neoplasm of breast (situation)"
}
],
"text": "Mutter an Brustkrebs verstorben"
}
],
"specimen": [
{
"reference": "Specimen/mii-exa-molgen-specimen-srcc"
}
]
},
"request": {
"method": "PUT",
"url": "ServiceRequest/mii-exa-molgen-anforderung-srcc"
}
},
{
"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-variante-srcc-ctnna1",
"resource": {
"resourceType": "Observation",
"id": "mii-exa-molgen-variante-srcc-ctnna1",
"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-srcc-ctnna1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-variante-srcc-ctnna1</b></p><a name=\"mii-exa-molgen-variante-srcc-ctnna1\"> </a><a name=\"hcmii-exa-molgen-variante-srcc-ctnna1\"> </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-srcc.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-srcc.html\">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</a></p><p><b>effective</b>: 2022-11-30</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-srcc.html\">Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#00070024; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2022-11-30</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:2509}\">CTNNA1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_001903.5}\">NM_001903.5</span></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_001903.5:c.1030del}\">NM_001903.5:c.1030del</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000005.9:g.138163372del}\">NC_000005.9:g.138163372del</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 NC_000005.9}\">NC_000005.9</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.(Leu344CysfsTer25)}\">p.(Leu344CysfsTer25)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</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:0000159}\">Deletion</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 5q31.2}\">5q31.2</span></p></blockquote></div></div>"
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"coding": [
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"code": "SO:0000159",
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{
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{
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"meta": {
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"text": {
"status": "extensions",
"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-srcc-ctnna1\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-srcc-ctnna1</b></p><a name=\"mii-exa-molgen-diagnostische-implikation-srcc-ctnna1\"> </a><a name=\"hcmii-exa-molgen-diagnostische-implikation-srcc-ctnna1\"> </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>Related artifact</b>: No display for RelatedArtifact (type: citation; citation: ClinGen; url: https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509)</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://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-srcc.html\">Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</a></p><p><b>effective</b>: 2022-11-30</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-srcc-ctnna1.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>: Diese Variante wird nach den ACMG/AMP-Kriterien zusammenfasssend als pathogen bewertet entsprechend IARC Class 5.</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 716859000}\">Hereditary diffuse carcinoma of stomach (disorder)</span></p></blockquote></div></div>"
},
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"type": "citation",
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"url": "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2509"
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}
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