FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting.r4b |
| Resource Type | Observation |
| Id | Observation-MSH2-del-molc.json |
| FHIR Version | R4B |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation MSH2-del-molc
status: Final
category: Laboratory, Genetics
code: Molecular Consequence
subject: Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))
effective: 2023-02-01
performer: Practitioner Test Dolin
derivedFrom: Observation Genetic variant assessment
component
code: coding HGVS
value: NM_000251.3:c.1832del
component
code: Feature Consequence
value: frameshift_variant
{
"resourceType": "Observation",
"id": "MSH2-del-molc",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "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": "molecular-consequence"
}
]
},
"subject": {
"reference": "Patient/CGPatientExample01"
},
"effectiveDateTime": "2023-02-01",
"performer": [
{
"reference": "Practitioner/pathologistPractitioner"
}
],
"derivedFrom": [
{
"reference": "Observation/MSH2-del-var"
}
],
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6"
}
],
"text": "coding HGVS"
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_000251.3:c.1832del",
"display": "NM_000251.3:c.1832del"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code": "feature-consequence"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.sequenceontology.org",
"code": "SO:0001589",
"display": "frameshift_variant"
}
]
}
}
]
}