@prefix fhir: . @prefix loinc: . @prefix owl: . @prefix rdf: . @prefix rdfs: . @prefix xsd: . # - resource ------------------------------------------------------------------- a fhir:Observation ; fhir:nodeRole fhir:treeRoot ; fhir:id [ fhir:v "MII-EXA-MTB-DNA-Fusion-1"] ; # fhir:meta [ fhir:profile ( [ fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-dna-fusion|2026.0.1"^^xsd:anyURI ; fhir:l ] ) ] ; # fhir:text [ fhir:status [ fhir:v "generated" ] ; fhir:div [ fhir:v "

Generated Narrative: Observation MII-EXA-MTB-DNA-Fusion-1

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Patient/example

component

code: Five Prime Chromosome

value: Chromosome 2

component

code: Three Prime Chromosome

value: Chromosome 5

component

code: Five Prime Position

value: 12345678-12345680

component

code: Three Prime Position

value: 87654321-87654323

component

code: Five Prime Gene

value: BRCA1

component

code: Three Prime Gene

value: RET

component

code: Allelic read depth

value: 150 Number of reported reads (Details: UCUM code1 = '1')

"^^rdf:XMLLiteral ] ] ; # fhir:status [ fhir:v "final"] ; # fhir:category ( [ fhir:coding ( [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "laboratory" ] ; fhir:display [ fhir:v "Laboratory" ] ] ) ] [ fhir:coding ( [ fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "GE" ] ] ) ] ) ; # fhir:code [ fhir:coding ( [ a loinc:69548-6 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "69548-6" ] ; fhir:display [ fhir:v "Genetic variant assessment" ] ] ) ] ; # fhir:subject [ fhir:l ; fhir:reference [ fhir:v "Patient/example" ] ] ; # fhir:component ( [ fhir:code [ fhir:coding ( [ fhir:system [ fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "five-prime-chromosome" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; fhir:coding ( [ a loinc:LA21255-7 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "LA21255-7" ] ; fhir:display [ fhir:v "Chromosome 2" ] ] ) ] ] [ fhir:code [ fhir:coding ( [ fhir:system [ fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "three-prime-chromosome" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; fhir:coding ( [ a loinc:LA21258-1 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "LA21258-1" ] ; fhir:display [ fhir:v "Chromosome 5" ] ] ) ] ] [ fhir:code [ fhir:coding ( [ fhir:system [ fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "five-prime-position" ] ] ) ] ; fhir:value [ a fhir:Range ; fhir:low [ fhir:value [ fhir:v "12345678"^^xsd:decimal ] ] ; fhir:high [ fhir:value [ fhir:v "12345680"^^xsd:decimal ] ] ] ] [ fhir:code [ fhir:coding ( [ fhir:system [ fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "three-prime-position" ] ] ) ] ; fhir:value [ a fhir:Range ; fhir:low [ fhir:value [ fhir:v "87654321"^^xsd:decimal ] ] ; fhir:high [ fhir:value [ fhir:v "87654323"^^xsd:decimal ] ] ] ] [ fhir:code [ fhir:coding ( [ fhir:system [ fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "five-prime-gene" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; fhir:coding ( [ fhir:code [ fhir:v "HGNC:1100" ] ; fhir:display [ fhir:v "BRCA1" ] ] ) ] ] [ fhir:code [ fhir:coding ( [ fhir:system [ fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "three-prime-gene" ] ] ) ] ; fhir:value [ a fhir:CodeableConcept ; fhir:coding ( [ fhir:code [ fhir:v "HGNC:9967" ] ; fhir:display [ fhir:v "RET" ] ] ) ] ] [ fhir:code [ fhir:coding ( [ a loinc:82121-5 ; fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "82121-5" ] ] ) ] ; fhir:value [ a fhir:Quantity ; fhir:value [ fhir:v "150"^^xsd:decimal ] ; fhir:unit [ fhir:v "Number of reported reads" ] ; fhir:system [ fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ; fhir:l ] ; fhir:code [ fhir:v "1" ] ] ] ) . # # -------------------------------------------------------------------------------------