Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot 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

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• Detailed Descriptions
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Extension: Genomic Study Analysis Genome Build

Official URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build				Version: 4.0.0-ballot
Standards status: Trial-use			Maturity Level: 1	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

Usages:

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

You can also check for usages in the FHIR IG Statistics

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()