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

• Content
• Detailed Descriptions
• Mappings
• XML
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• TTL

Extension: Genomic Study Analysis Genome Build

Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build				Version: 3.0.0
Active as of 2024-11-19				Computable Name: GenomicStudyAnalysisGenomeBuild

Defines the genome build for a genomic analysis

Context of Use

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

• Element ID Procedure

Usage info

Usage:

• Use this Extension: Genomic Study Analysis
• Examples for this Extension: Procedure/PGXGenomicStudyAnalysis, Procedure/analysisTumorNormalDNA, Procedure/genomicstudyanalysis-trio2, Procedure/lungMass-analysis1 and Procedure/lungMass-analysis2

Formal Views of Extension Content

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

 

Other representations of profile: CSV, Excel, Schematron

Terminology Bindings

Path	Conformance	ValueSet	URI
Extension.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6

Constraints

Id	Grade	Path(s)	Details	Requirements
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()