Connectathon 11 Snapshot
This page is part of the FHIR Specification (v1.2.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions 
An example of a genetics test report
{
"resourceType": "DiagnosticReport",
"id": "dg1",
"text": {
"status": "generated",
"div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: dg1</p><p><b>contained</b>: , , , , </p><p><b>status</b>: final</p><p><b>category</b>: Laboratory test <span>(Details : {SNOMED CT code '15220000' = '15220000', given as 'Laboratory test'}; {http://hl7.org/fhir/v2/0074 code 'LAB' = 'Laboratory)</span></p><p><b>code</b>: ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>effective</b>: 04/03/2014 8:30:00 AM</p><p><b>issued</b>: 16/05/2014 10:28:00 AM</p><p><b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><p><b>result</b>: </p><ul><li>Genetic analysis master panel for ABCB4 -variant1. Generated Summary: id: od-1; Extensions: todo, Extensions: todo, Extensions: todo, Extensions: todo; status: final; ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span>; positive <span>(Details : {http://hl7.org/fhir/v2/0078 code 'POS' = 'Positive)</span></li><li>Genetic analysis master panel for ABCB4 -variant2. Generated Summary: id: od-2; Extensions: todo, Extensions: todo, Extensions: todo, Extensions: todo; status: final; ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span>; positive <span>(Details : {http://hl7.org/fhir/v2/0078 code 'POS' = 'Positive)</span></li><li>Genetic analysis master panel for ABCB4 -variant3. Generated Summary: id: od-3; Extensions: todo, Extensions: todo, Extensions: todo, Extensions: todo; status: final; ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span>; positive <span>(Details : {http://hl7.org/fhir/v2/0078 code 'POS' = 'Positive)</span></li><li>Genetic analysis master panel for ABCB4 -variant4. Generated Summary: id: od-4; Extensions: todo, Extensions: todo, Extensions: todo, Extensions: todo; status: final; ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span>; positive <span>(Details : {http://hl7.org/fhir/v2/0078 code 'POS' = 'Positive)</span></li></ul></div>"
},
"contained": [
{
"resourceType": "Condition",
"id": "c1",
"patient": {
"reference": "Patient/p1"
},
"code": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "254626006"
}
],
"text": "Adenocarcinoma of lung "
},
"category": {
"coding": [
{
"system": "http://hl7.org/fhir/condition-category",
"code": "finding",
"display": "Finding"
}
]
},
"verificationStatus": "provisional"
},
{
"resourceType": "Observation",
"id": "od-1",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence",
"valueReference": {
"reference": "Sequence/seq2-1"
}
},
{
"extension": [
{
"url": "genomeBuild",
"valueCodeableConcept": {
"text": "GRCh 38"
}
},
{
"url": "name",
"valueCodeableConcept": {
"text": "c.2708T>C"
}
}
],
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "5244",
"display": "ABCB4"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsRegion",
"valueCodeableConcept": {
"text": "Exon 23"
}
}
],
"status": "final",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "49874-1",
"display": "ABCB4 gene mutation analysis"
}
]
},
"interpretation": {
"coding": [
{
"system": "http://hl7.org/fhir/v2/0078",
"code": "POS"
}
],
"text": "positive"
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic disease sequence variation interpretation"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"code": "LA6682-4",
"display": "Unknown significance"
}
]
}
}
]
},
{
"resourceType": "Observation",
"id": "od-2",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence",
"valueReference": {
"reference": "Sequence/seq2-2"
}
},
{
"extension": [
{
"url": "genomeBuild",
"valueCodeableConcept": {
"text": "GRCh 38"
}
},
{
"url": "name",
"valueCodeableConcept": {
"text": "c.181T>G"
}
}
],
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "5244",
"display": "ABCB4"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsRegion",
"valueCodeableConcept": {
"text": "Exon 6"
}
}
],
"status": "final",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "49874-1",
"display": "ABCB4 gene mutation analysis"
}
]
},
"interpretation": {
"coding": [
{
"system": "http://hl7.org/fhir/v2/0078",
"code": "POS"
}
],
"text": "positive"
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic disease sequence variation interpretation"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"code": "LA6675-8",
"display": "Benign"
}
]
}
}
]
},
{
"resourceType": "Observation",
"id": "od-3",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence",
"valueReference": {
"reference": "Sequence/seq2-3"
}
},
{
"extension": [
{
"url": "genomeBuild",
"valueCodeableConcept": {
"text": "GRCh 38"
}
},
{
"url": "name",
"valueCodeableConcept": {
"text": "c.2211+16C>T"
}
}
],
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "5244",
"display": "ABCB4"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsRegion",
"valueCodeableConcept": {
"text": "intron 16"
}
}
],
"status": "final",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "49874-1",
"display": "ABCB4 gene mutation analysis"
}
]
},
"interpretation": {
"coding": [
{
"system": "http://hl7.org/fhir/v2/0078",
"code": "POS"
}
],
"text": "positive"
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic disease sequence variation interpretation"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"code": "LA6675-8",
"display": "Benign"
}
]
}
}
]
},
{
"resourceType": "Observation",
"id": "od-4",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence",
"valueReference": {
"reference": "Sequence/seq2-4"
}
},
{
"extension": [
{
"url": "genomeBuild",
"valueCodeableConcept": {
"text": "GRCh 38"
}
},
{
"url": "name",
"valueCodeableConcept": {
"text": "c.3487-16T>C"
}
}
],
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsGene",
"valueCodeableConcept": {
"coding": [
{
"system": "http://www.genenames.org",
"code": "5244",
"display": "ABCB4"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/observation-geneticsRegion",
"valueCodeableConcept": {
"text": "intron 26"
}
}
],
"status": "final",
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "49874-1",
"display": "ABCB4 gene mutation analysis"
}
]
},
"interpretation": {
"coding": [
{
"system": "http://hl7.org/fhir/v2/0078",
"code": "POS"
}
],
"text": "positive"
},
"component": [
{
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "53037-8",
"display": "Genetic disease sequence variation interpretation"
}
]
},
"valueCodeableConcept": {
"coding": [
{
"code": "LA6675-8",
"display": "Benign"
}
]
}
}
]
}
],
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsAssessedCondition",
"valueReference": {
"reference": "#c1"
}
},
{
"extension": [
{
"url": "type",
"valueCodeableConcept": {
"coding": [
{
"system": "http://loinc.org",
"code": "51968-6",
"display": "Genetic Disease Analysis Overall Interpretation"
}
]
}
},
{
"url": "interpretation",
"valueCodeableConcept": {
"coding": [
{
"code": "LA9663-1 ",
"display": "Inconclusive"
}
]
}
}
],
"url": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsAnalysis"
}
],
"status": "final",
"category": {
"coding": [
{
"system": "http://snomed.info/sct",
"code": "15220000",
"display": "Laboratory test"
},
{
"system": "http://hl7.org/fhir/v2/0074",
"code": "LAB"
}
]
},
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "49874-1",
"display": "ABCB4 gene mutation analysis"
}
]
},
"subject": {
"reference": "Patient/genetics-example2",
"display": "Molecular Lab Patient ID: HOSP-23456"
},
"effectiveDateTime": "2014-03-04T08:30:00+11:00",
"issued": "2014-05-16T10:28:00+01:00",
"performer": {
"reference": "Practitioner/genetics-example2",
"display": "Molecular Diagnostic Laboratory"
},
"specimen": [
{
"reference": "Specimen/genetics-example2",
"display": "Molecular Specimen ID: MLD45-Z4-1234"
}
],
"result": [
{
"reference": "#od-1",
"display": "Genetic analysis master panel for ABCB4 -variant1"
},
{
"reference": "#od-2",
"display": "Genetic analysis master panel for ABCB4 -variant2"
},
{
"reference": "#od-3",
"display": "Genetic analysis master panel for ABCB4 -variant3"
},
{
"reference": "#od-4",
"display": "Genetic analysis master panel for ABCB4 -variant4"
}
]
}
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.
© HL7.org 2011+. FHIR DSTU2 (v1.2.0-7447) generated on Fri, Dec 11, 2015 17:42+1100.
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