<status value="active" /> <experimental value="true" /> <date value="2025-06-20" /> <publisher value="Deep 6 AI" /> <contact> <name value="Deep 6 AI" /> <telecom> <system value="url" /> <value value="http://deep6.ai/" /> </telecom> </contact> <description value="This profile adds constraints to the Genomics reporting Variant, which now requires an effectiveDateTime, a gene-studied component, and a coding-change-type component." /> <fhirVersion value="4.0.1" /> <mapping> <identity value="workflow" /> <uri value="http://hl7.org/fhir/workflow" /> <name value="Workflow Pattern" /> </mapping> <mapping> <identity value="sct-concept" /> <uri value="http://snomed.info/conceptdomain" /> <name value="SNOMED CT Concept Domain Binding" /> </mapping> <mapping> <identity value="v2" /> <uri value="http://hl7.org/v2" /> <name value="HL7 v2 Mapping" /> </mapping> <mapping> <identity value="rim" /> <uri value="http://hl7.org/v3" /> <name value="RIM Mapping" /> </mapping> <mapping> <identity value="w5" /> <uri value="http://hl7.org/fhir/fivews" /> <name value="FiveWs Pattern Mapping" /> </mapping> <mapping> <identity value="sct-attr" /> <uri value="http://snomed.org/attributebinding" /> <name value="SNOMED CT Attribute Binding" /> </mapping> <kind value="resource" /> <abstract value="false" /> <type value="Observation" /> <baseDefinition value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" /> <derivation value="constraint" /> <snapshot> <extension url="http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version"> <valueString value="3.0.0" /> </extension> </snapshot> <differential> <element id="Observation"> <path value="Observation" /> </element> <element id="Observation.subject"> <path value="Observation.subject" /> <requirements value="subject is required." /> <min value="1" /> </element> <element id="Observation.effective[x]"> <path value="Observation.effective[x]" /> <requirements value="effectiveDatetime is required." /> <min value="1" /> <type> <code value="dateTime" /> </type> </element> <element id="Observation.component"> <path value="Observation.component" /> <requirements value="There must be at least one component." /> <min value="2" /> </element> <element id="Observation.component:gene-studied"> <path value="Observation.component" /> <sliceName value="gene-studied" /> <sliceIsConstraining value="true" /> <requirements value="gene-studied slice is required. May be repeated to indicate multiple genes (ie. "fusion" scenario)." /> <min value="1" /> <max value="2" /> </element> <element id="Observation.component:gene-studied.value[x]"> <path value="Observation.component.value[x]" /> <type> <code value="CodeableConcept" /> </type> <binding> <strength value="required" /> <valueSet value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs" /> </binding> </element> <element id="Observation.component:coding-change-type"> <path value="Observation.component" /> <sliceName value="coding-change-type" /> <sliceIsConstraining value="true" /> <definition value="Wild type or lack of identifiable variation is expected to be coded as [no_sequence_alteration(SO:0002073)](http://sequenceontology.org/browser/current_release/term/SO:0002073)" /> <requirements value="coding-change-type slice is required." /> <min value="1" /> </element> <element id="Observation.component:coding-change-type.value[x]"> <path value="Observation.component.value[x]" /> <type> <code value="CodeableConcept" /> </type> <binding> <strength value="required" /> <valueSet value="http://deep6.ai/fhir/ValueSet/deep-6-ai-dna-change-type" /> </binding> </element> </differential> </StructureDefinition>

Generated Narrative: StructureDefinition deep-6-ai-variant-2.2.0

Name	Card.	Type	Description & Constraints
Observation	0 .. *	Variant	Variant
subject	1..1	Reference(Patient \| Group \| Device \| Location)	Who and/or what the observation is about
effective[x]	1..1	dateTime	Clinically relevant time/time-period for observation
component	2..*	BackboneElement	Component results
Slices for component			Content/Rules for all slices
component:gene-studied	1..2	BackboneElement	Gene Studied
value[x]	1 .. 1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) ( required )
component:coding-change-type	1..1	BackboneElement	Coding DNA Change Type
value[x]	1 .. 1	CodeableConcept	deletion \| insertion \| delins \| SNV \| copy_number_gain \| copy_number_loss \| ... (many) Binding: Deep 6 AI DNA Change Type Value Set ( required )
Documentation for this format