Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Example - HLA genotyping for HLA-A, using GLStrings - TTL Representation

Raw ttl | Download


@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://loinc.org/rdf#> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@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:Resource.id [ fhir:value "genotype-hla-a-glstring-r4"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n            <pre>\nHLA-A genotyping for sample 123456789\nHLA-A*03:01:01:01+HLA-A*30:01:01</pre>\n        </div>"
  ];
  fhir:Observation.basedOn [
     fhir:index 0;
     fhir:Reference.display [ fhir:value "Sequence-based typing of HLA-A for sample-id=123456789" ]
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ];
       fhir:Coding.code [ fhir:value "laboratory" ]     ]
  ];
  fhir:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:84413-4;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "84413-4" ];
       fhir:Coding.display [ fhir:value "Genotype display name" ]     ], [
       fhir:index 1;
       a loinc:57290-9;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "57290-9" ];
       fhir:Coding.display [ fhir:value "HLA-A [Type] by High resolution" ]     ]
  ];
  fhir:Observation.effectiveDateTime [ fhir:value "2018-07-26"^^xsd:date];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.type [ fhir:value "Organization" ];
     fhir:Reference.display [ fhir:value "aTypingLab, Inc" ]
  ];
  fhir:Observation.valueCodeableConcept [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       fhir:Coding.system [ fhir:value "http://glstring.org" ];
       fhir:Coding.version [ fhir:value "1.0" ];
       fhir:Coding.code [ fhir:value "hla#3.31.0#HLA-A*03:01:01:01+HLA-A*30:01:01" ]     ]
  ];
  fhir:Observation.method [
     fhir:CodeableConcept.text [ fhir:value "PACBIO Sequel" ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.display [ fhir:value "buccal swab: 123456789" ]
  ];
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:Reference.type [ fhir:value "Observation" ];
     fhir:Reference.display [ fhir:value "HLA-A Allele: HLA-A*03:01:01:01" ]
  ], [
     fhir:index 1;
     fhir:Reference.type [ fhir:value "Observation" ];
     fhir:Reference.display [ fhir:value "HLA-A Allele: HLA-A*30:01:01" ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:48018-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "48018-6" ];
         fhir:Coding.display [ fhir:value "Gene studied [ID]" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://www.genenames.org/geneId" ];
         fhir:Coding.code [ fhir:value "HGNC:4931" ];
         fhir:Coding.display [ fhir:value "HLA-A" ]       ]     ]
  ].

# - ontology header ------------------------------------------------------------

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.