FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.seltene |
| Resource Type | Observation |
| Id | Observation-variant-smn2-001.json |
| FHIR Version | R4 |
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{
"resourceType": "Observation",
"id": "variant-smn2-001",
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "55233-1",
"display": "Genetic analysis master panel"
}
]
},
"subject": {
"reference": "Patient/patient-sma-001"
},
"effectiveDateTime": "2024-07-26",
"note": [
{
"text": "2 Kopien des SMN2-Gens, Modifikator des Phänotyps"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org/geneId",
"code": "HGNC:11118",
"display": "SMN2"
}
]
}
},
{
"code": {
"text": "Copy Number"
},
"valueQuantity": {
"value": 2,
"unit": "copies"
}
}
]
}