This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 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 - Observation for a single HLA-A allele - TTL Representation

(back to narrative)

Raw ttl

@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 "haplotype-hla-a-1-r4"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n            <pre>Observation for HLA-A*03:01:01:01 allele</pre>\n        </div>"
  ];
  fhir:Observation.basedOn [
     fhir:index 0;
     fhir:Reference.type [ fhir:value "ServiceRequest" ];
     fhir:Reference.display [ fhir:value "Sequence-based typing of HLA-A for sample 001-246802468" ]
  ];
  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:84414-2;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "84414-2" ];
       fhir:Coding.display [ fhir:value "Haplotype 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://www.ebi.ac.uk/ipd/imgt/hla" ];
       fhir:Coding.version [ fhir:value "3.31.0" ];
       fhir:Coding.code [ fhir:value "HLA-A*03:01:01:01" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.display [ fhir:value "buccal swab: 123456789" ]
  ];
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:Reference.type [ fhir:value "MolecularSequence" ];
     fhir:Reference.display [ fhir:value "Sequence for HLA-A*03:01:01:01" ]
  ];
  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" ]       ];
       fhir:CodeableConcept.text [ fhir:value "HLA-A" ]     ]
  ].

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

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