FHIR IG analytics| Package | fhir.gdx |
| Resource Type | Observation |
| Id | Observation-PrenatalVariant1SNPAlpha1ADPatientMale.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation PrenatalVariant1SNPAlpha1ADPatientMale
version: 1; Last updated: 2024-09-25 00:01:34+0000;
Information Source: #hrQE3dHjuHuJ5zkf
Profile: Variant
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2024-07-09
performer: Practitioner PractitionerJane Smith
value: Present
method: Sequencing
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Genomic source class [Type]
value: Germline
component
code: Variant category
value: Simple variant
component
code: Allelic state
value: Heterozygous
component
code: DNA change (c.HGVS)
value: NM_000295.4(SERPINA1):c.1096G>A(E366K, aka Z allele) heterozygote
component
code: Transcript reference sequence [ID]
value: NM_000295.4
component
code: DNA change type
value: Substitution
component
code: Genomic reference sequence identifier
value: NM_000295.4
component
code: Gene studied [ID]
value: SERPINA1
FHIR
FHIRsmith{
"resourceType": "Observation",
"id": "PrenatalVariant1SNPAlpha1ADPatientMale",
"meta": {
"versionId": "1",
"lastUpdated": "2024-09-25T00:01:34.798+00:00",
"source": "#hrQE3dHjuHuJ5zkf",
"profile": [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"
]
},
"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://loinc.org",
"code": "69548-6",
"display": "Genetic variant assessment"
}
]
},
"subject": {
"reference": "Patient/PatientMale"
},
"effectiveDateTime": "2024-07-09",
"performer": [
{
"reference": "Practitioner/PractitionerLabDirector"
}
],
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA9633-4",
"display": "Present"
}
]
},
"method": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26398-0",
"display": "Sequencing"
}
]
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic variation clinical significance [Imp]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6668-3",
"display": "Pathogenic"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48002-0",
"display": "Genomic source class [Type]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6683-2",
"display": "Germline"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "83005-9",
"display": "Variant category"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA26801-3",
"display": "Simple variant"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53034-5",
"display": "Allelic state"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "LA6706-1",
"display": "Heterozygous"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48004-6",
"display": "DNA change (c.HGVS)"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_000295.4:c.1096G>A",
"display": "NM_000295.4(SERPINA1):c.1096G>A(E366K, aka Z allele) heterozygote"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51958-7",
"display": "Transcript reference sequence [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "NM_000295.4",
"display": "NM_000295.4"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48019-4",
"display": "DNA change type"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://varnomen.hgvs.org",
"code": "LA6690-7",
"display": "Substitution"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48013-7",
"display": "Genomic reference sequence identifier"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/refseq",
"code": "NM_000295.4"
}
]
}
},
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "48018-6",
"display": "Gene studied [ID]"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "HGNC:8941",
"display": "SERPINA1"
}
]
}
}
]
}