Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Extension: Genomic Study Analysis Source Class

Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class Version: 3.0.0
Active as of 2025-05-14 Computable Name: GenomicStudyAnalysisGenomicSourceClass

The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.

Context of Use

This extension may be used on the following element(s):

  • Element ID Procedure

Usage info

Usage:

Formal Views of Extension Content

Description of Profiles, Differentials, Snapshots, and how the XML and JSON presentations work.

This structure is derived from Extension

Summary

Simple Extension with the type CodeableConcept: The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Source Class
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class"
... value[x] 0..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (extensible)

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Source Class
... id 0..1 string Unique id for inter-element referencing
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class"

doco Documentation for this format

This structure is derived from Extension

Summary

Simple Extension with the type CodeableConcept: The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.

Differential View

This structure is derived from Extension

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Source Class
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class"
... value[x] 0..1 CodeableConcept Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (extensible)

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Extension 0..* Extension Genomic Study Analysis Source Class
... id 0..1 string Unique id for inter-element referencing
... extension 0..0
... url 1..1 uri "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genomic-source-class"

doco Documentation for this format

 

Other representations of profile: CSV, Excel, Schematron

Terminology Bindings

PathConformanceValueSetURI
Extension.value[x]extensibleLOINC LL378-1
http://loinc.org/vs/LL378-1

Constraints

IdGradePath(s)DetailsRequirements
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()