Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions
: Phenopackets Genomic Interpretation Example-2 - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:_DiagnosticReport ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "PhenopacketsGenomicInterpretationExample02"] ; #
fhir:meta [
( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/phenopackets-genomic-interpretation"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/phenopackets-genomic-interpretation> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2><span title=\"Codes:{http://loinc 123}\">some loinc code</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td><b>John Doe </b> unknown, DoB Unknown ( 04 (use: temp))</td></tr><tr><td>Identifier:</td><td> 02</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td></tr><tr><td><a href=\"Observation-PhenopacketsVariantExample01.html\"><span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td/></tr></table><p>A rare genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://snomed.info/sct 783549006}\">Obesity due to centrosomal protein 19 deficiency (disorder)</span></li></ul></div>"
] ; #
fhir:modifierExtension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/phenomics-exchange/StructureDefinition/interpretation-status"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [ fhir:v "http://phenopacket-schema.readthedocs.io/en/v2/genomic-interpretation.html#interpretationstatus"^^xsd:anyURI ] ;
fhir:code [ fhir:v "0" ] ;
fhir:display [ fhir:v "UNKNOWN_STATUS" ] ] ) ]
] ) ; #
fhir:identifier ( [
fhir:value [ fhir:v "02" ]
] ) ; #
fhir:status [ fhir:v "unknown"] ; #
fhir:category ( [
( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ;
fhir:code [ fhir:v "GE" ] ;
fhir:display [ fhir:v "Genetics" ] ] )
] ) ; #
fhir:code [
( fhir:coding [
fhir:system [ fhir:v "http://loinc"^^xsd:anyURI ] ;
fhir:code [ fhir:v "123" ] ;
fhir:display [ fhir:v "some loinc code" ] ] )
] ; #
fhir:subject [
fhir:reference [ fhir:v "Patient/phenopacketPatientExample01" ]
] ; #
fhir:specimen ( [
fhir:reference [ fhir:v "Specimen/phenopacketSpecimenExample01" ]
] ) ; #
fhir:result ( [
fhir:reference [ fhir:v "Observation/PhenopacketsVariantExample01" ]
] ) ; #
fhir:conclusion [ fhir:v "A rare genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported."] ; #
fhir:conclusionCode ( [
( fhir:coding [
a sct:783549006 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "783549006" ] ;
fhir:display [ fhir:v "Obesity due to centrosomal protein 19 deficiency (disorder)" ] ] )
] ) . #
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