MII IG Kerndatensatz-Modul Molekulares Tumorboard, published by Medizininformatik-Initiative. This guide is not an authorized publication; it is the continuous build for version 2026.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/medizininformatik-initiative/kerndatensatzmodul-molekulares-tumorboard/ and changes regularly. See the Directory of published versions
: TP53 Einfache Variante - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:Observation ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "mii-exa-mtb-kim-musterperson-EinfacheVariante-TP53"] ; #
fhir:meta [
( fhir:profile [
fhir:v "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante|2026.0.0"^^xsd:anyURI ;
fhir:l <https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante?version=2026.0.0> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation mii-exa-mtb-kim-musterperson-EinfacheVariante-TP53</b></p><a name=\"mii-exa-mtb-kim-musterperson-EinfacheVariante-TP53\"> </a><a name=\"hcmii-exa-mtb-kim-musterperson-EinfacheVariante-TP53\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-mii-pr-mtb-einfache-variante.html\">MII PR MTB Einfache Varianteversion: null2026.0.0)</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-PatientKimMusterperson.html\">Kim Musterperson (no stated gender), DoB: 1956-03-14</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:11998}\">TP53</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_000537.3:p.Arg213Ter}\">NP_000537.3:p.Arg213Ter</span></p></blockquote></div>"^^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 <http://terminology.hl7.org/CodeSystem/observation-category> ] ;
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 <http://terminology.hl7.org/CodeSystem/v2-0074> ] ;
fhir:code [ fhir:v "GE" ] ] )
] ) ; #
fhir:code [
( fhir:coding [
a loinc:69548-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "69548-6" ] ;
fhir:display [ fhir:v "Genetic variant assessment" ] ] )
] ; #
fhir:subject [
fhir:l fhir:Patient/PatientKimMusterperson ;
fhir:reference [ fhir:v "Patient/PatientKimMusterperson" ]
] ; #
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
a loinc:LA9633-4 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "LA9633-4" ] ;
fhir:display [ fhir:v "Present" ] ] )
] ; #
fhir:component ( [
fhir:code [
( fhir:coding [
a loinc:48018-6 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "48018-6" ] ;
fhir:display [ fhir:v "Gene studied [ID]" ] ] ) ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [
fhir:v "http://www.genenames.org/geneId"^^xsd:anyURI ;
fhir:l <http://www.genenames.org/geneId> ] ;
fhir:code [ fhir:v "HGNC:11998" ] ;
fhir:display [ fhir:v "TP53" ] ] ) ]
] [
fhir:code [
( fhir:coding [
a loinc:48005-3 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "48005-3" ] ;
fhir:display [ fhir:v "Amino acid change (pHGVS)" ] ] ) ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [
fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ;
fhir:l <http://varnomen.hgvs.org> ] ;
fhir:code [ fhir:v "NP_000537.3:p.Arg213Ter" ] ] ) ]
] ) . #