FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | Bundle |
| Id | Bundle-mii-exa-molgen-bundle-comprehensive-wes.json |
| FHIR Version | R4 |
No resources found
No resources found
No narrative content found in resource
FHIR
FHIRsmith{
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"comment": "Coverage plot showing uniform coverage across all exons",
"link": {
"reference": "Media/mii-exa-molgen-media-coverage-plot"
}
}
],
"conclusion": "Whole exome sequencing identified a pathogenic de novo variant in the KMT2A gene, consistent with Wiedemann-Steiner syndrome. Technical quality metrics met all acceptance criteria.",
"conclusionCode": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6576-8",
"display": "Positive"
}
]
}
]
},
"request": {
"method": "POST",
"url": "DiagnosticReport"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Practitioner/mii-exa-molgen-practitioner-bundle",
"resource": {
"resourceType": "Practitioner",
"id": "mii-exa-molgen-practitioner-bundle",
"identifier": [
{
"system": "https://www.medizininformatik-initiative.de/fhir/sid/practitioner-ids",
"value": "12345"
}
],
"name": [
{
"family": "Schmidt",
"given": [
"Anna"
],
"prefix": [
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}
]
},
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"url": "Practitioner"
}
},
{
"fullUrl": "https://www.medizininformatik-initiative.de/fhir/Practitioner/mii-exa-molgen-practitioner-lab-bundle",
"resource": {
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"id": "mii-exa-molgen-practitioner-lab-bundle",
"identifier": [
{
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"value": "67890"
}
],
"name": [
{
"family": "Weber",
"given": [
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],
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]
},
"request": {
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]
}