R6 Ballot (3rd Draft) R5 Final QA
Publish-box (todo)

This page is part of the FHIR Specification (v5.0.0-draft-final: Final QA Preview for R5 - see ballot notes ). The current version which supercedes this version is 5.0.0 . For a full list of available versions, see the Directory of published versions

Example GenomicStudy/example-trio2 (Narrative)

Encounterhistory.shex

Clinical Genomics Patient Administration Work Group Maturity Level : N/A Standards Status : Informative Compartments : Group Encounter , Patient
Narrative XML JSON TTL

This is the narrative for the resource. See also the XML , JSON or Turtle format. This example conforms to the profile GenomicStudy . Generated Narrative: GenomicStudy example-trio2 identifier : http://www.somesystemabc.net/identifiers/genomicstudies /urn:uuid:1111-1111-1111-1113 (use: temp, ) status : available type : Trio-analysis subject : Anonymous Patient female, DoB: 1966-04-04 ( Computer-Stored Abulatory Records (COSTAR): 999999999 (use: usual, )) encounter : Encounter/denovoEncounter startDate : 2022-05-01 basedOn : ServiceRequest/genomicSRProband ServiceRequest/genomicSRMother ServiceRequest/genomicSRFather referrer : Practitioner/practitioner01 interpreter : Practitioner/practitioner02 Raw ShEx

Reasons - Concept * Cystic fibrosis, prenatal detection (procedure)

note : This de novo mutation is urgent and important ShEx statement for establishing the treatment plan. description : De novo mutation study of the patient. The Prenatal Trio Whole Exome Sequencing (Prenatal Trio WES) test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. In general, the test is used when prenatal imaging detects an anomaly that strongly suggests that there is an underlying genetic etiology. Prenatal Trio WES is often considered only after fetal chromosome microarray analysis has been non-diagnostic. analysis identifier : http://www.somesystemabc.net/identifiers/genomicAnalyses /urn:uuid:1111-1111-1111-1112 (use: temp, ) instantiatesUri : https://pubmed.ncbi.nlm.nih.gov/33927380/ title : Maternal Sequence Variation Detection Using Next Generation Sequencing focus : Patient/mother specimen : Specimen/specimenMother date : 2022-07-01T01:01:10-06:00 note : This is a next generation sequencing analysis of a mother of a proband. Performers - Actor Role * Practitioner/practitioner02 Performer Devices - Device * Device/NGS-device analysis identifier : http://www.somesystemabc.net/identifiers/genomicAnalyses /urn:uuid:1111-1111-1111-1113 (use: temp, ) instantiatesUri : https://pubmed.ncbi.nlm.nih.gov/33927380/ title : Paternal Sequence Variation Detection Using Next Generation Sequencing focus : Patient/father specimen : Specimen/specimenFather date : 2022-07-01T01:01:10-06:00 note : This is a next generation sequencing analysis of a father of a proband. Performers - Actor Role * Practitioner/practitioner02 Performer Devices - Device * Device/NGS-device analysis identifier : http://www.somesystemabc.net/identifiers/genomicAnalyses /urn:uuid:1111-1111-1111-1114 (use: temp, ) instantiatesUri : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885382/ title : De Novo Mutation Detection and Interpretation focus : Patient/denovoChild RelatedPerson/relatedPersonDenovoFather RelatedPerson/relatedPersonDenovoMother date : 2022-07-01T03:01:10-06:00 note : This is a next generation sequencing analysis of the comparison analysis of proband and parents sequences. input file : DocumentReference/genomicFileProband type : BAM input file : DocumentReference/genomicFileMother type : BAM input file : DocumentReference/genomicFileFather type : BAM encounterhistory

Outputs - File Type * DocumentReference/genomicFileGroupAsSubject VCF Performers - Actor Role * Practitioner/practitioner02 Performer Devices - Device * Device/Triodenovo-SW
PREFIX fhir: <http://hl7.org/fhir/> 
PREFIX fhirvs: <http://hl7.org/fhir/ValueSet/>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#> 
PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> 

IMPORT <code.shex>
IMPORT <Group.shex>
IMPORT <Period.shex>
IMPORT <Patient.shex>
IMPORT <dateTime.shex>
IMPORT <Duration.shex>
IMPORT <Location.shex>
IMPORT <Reference.shex>
IMPORT <Encounter.shex>
IMPORT <Identifier.shex>
IMPORT <DomainResource.shex>
IMPORT <CodeableConcept.shex>
IMPORT <BackboneElement.shex>
IMPORT <CodeableReference.shex>


start=@<EncounterHistory> AND {fhir:nodeRole [fhir:treeRoot]}

# A record of significant events/milestones key data throughout the history of an Encounter
<EncounterHistory> EXTENDS @<DomainResource> CLOSED {   

    a [fhir:EncounterHistory]?;
    fhir:nodeRole [fhir:treeRoot]?;

    fhir:encounter @<Reference> AND {fhir:link 
    			@<Encounter> ? }?;  # The Encounter associated with this 
                                            # set of historic values 
    fhir:identifier @<OneOrMore_Identifier>?;  # Identifier(s) by which this 
                                            # encounter is known 
    fhir:status @<code> AND
    	{fhir:v @fhirvs:encounter-status};  # planned | in-progress | on-hold | 
                                            # discharged | completed | cancelled 
                                            # | discontinued | entered-in-error 
                                            # | unknown 
    fhir:class @<CodeableConcept>;          # Classification of patient encounter
    fhir:type @<OneOrMore_CodeableConcept>?;  # Specific type of encounter
    fhir:serviceType @<OneOrMore_CodeableReference>?;  # Specific type of service
    fhir:subject @<Reference> AND {fhir:link 
    			@<Group> OR 
    			@<Patient> ? }?;  # The patient or group related to 
                                            # this encounter 
    fhir:subjectStatus @<CodeableConcept>?;  # The current status of the subject 
                                            # in relation to the Encounter 
    fhir:actualPeriod @<Period>?;           # The actual start and end time 
                                            # associated with this set of values 
                                            # associated with the encounter 
    fhir:plannedStartDate @<dateTime>?;     # The planned start date/time (or 
                                            # admission date) of the encounter 
    fhir:plannedEndDate @<dateTime>?;       # The planned end date/time (or 
                                            # discharge date) of the encounter 
    fhir:length @<Duration>?;               # Actual quantity of time the 
                                            # encounter lasted (less time 
                                            # absent) 
    fhir:location @<OneOrMore_EncounterHistory.location>?;  # Location of the patient at this 
                                            # point in the encounter 
}  

# Location of the patient at this point in the encounter
<EncounterHistory.location> EXTENDS @<BackboneElement> CLOSED {   
    fhir:location @<Reference> AND {fhir:link 
    			@<Location> ? };  # Location the encounter takes place
    fhir:form @<CodeableConcept>?;          # The physical type of the location 
                                            # (usually the level in the location 
                                            # hierarchy - bed, room, ward, 
                                            # virtual etc.) 
}  

#---------------------- Cardinality Types (OneOrMore) -------------------

<OneOrMore_Identifier> CLOSED {
    rdf:first @<Identifier>  ;
    rdf:rest [rdf:nil] OR @<OneOrMore_Identifier> 
}

<OneOrMore_CodeableConcept> CLOSED {
    rdf:first @<CodeableConcept>  ;
    rdf:rest [rdf:nil] OR @<OneOrMore_CodeableConcept> 
}

<OneOrMore_CodeableReference> CLOSED {
    rdf:first @<CodeableReference>  ;
    rdf:rest [rdf:nil] OR @<OneOrMore_CodeableReference> 
}

<OneOrMore_EncounterHistory.location> CLOSED {
    rdf:first @<EncounterHistory.location>  ;
    rdf:rest [rdf:nil] OR @<OneOrMore_EncounterHistory.location> 
}

#---------------------- Value Sets ------------------------

# Current state of the encounter.
fhirvs:encounter-status ["planned" "in-progress" "on-hold" "discharged" "completed" "cancelled" "discontinued" "entered-in-error" "unknown"]


   

Usage note: every effort has been made to ensure that the examples ShEx files are correct and useful, but they are not a normative part of the specification.