{ "resourceType": "StructureDefinition", "id": "deep-6-ai-variant-2.2.0", "text": { "status": "extensions", "div": "

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

\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n
NameFlagsCard.TypeDescription & Constraints\"doco\"
\".\"\".\" Observation 0..*VariantVariant
\".\"\".\"\".\" subject 1..1Reference(Patient | Group | Device | Location)Who and/or what the observation is about
\".\"\".\"\".\" effective[x] 1..1dateTimeClinically relevant time/time-period for observation
\".\"\".\"\".\" component 2..*BackboneElementComponent results
\".\"\".\"\".\" Slices for component Content/Rules for all slices
\".\"\".\"\".\"\".\" component:gene-studied 1..2BackboneElementGene Studied
\".\"\".\"\".\"\".\"\".\" value[x] 1..1CodeableConceptThe 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..1BackboneElementCoding DNA Change Type
\".\"\".\"\".\"\".\"\".\" value[x] 1..1CodeableConceptdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
Binding: Deep 6 AI DNA Change Type Value Set (required)

\"doco\" Documentation for this format
" }, "url": "http://deep6.ai/fhir/StructureDefinition/deep-6-ai-variant-2.2.0", "version": "2.5.0", "name": "Deep6AIVariant", "title": "Deep 6 AI Variant", "status": "active", "experimental": true, "date": "2025-06-20", "publisher": "Deep 6 AI", "contact": [ { "name": "Deep 6 AI", "telecom": [ { "system": "url", "value": "http://deep6.ai/" } ] } ], "description": "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": "4.0.1", "mapping": [ { "identity": "workflow", "uri": "http://hl7.org/fhir/workflow", "name": "Workflow Pattern" }, { "identity": "sct-concept", "uri": "http://snomed.info/conceptdomain", "name": "SNOMED CT Concept Domain Binding" }, { "identity": "v2", "uri": "http://hl7.org/v2", "name": "HL7 v2 Mapping" }, { "identity": "rim", "uri": "http://hl7.org/v3", "name": "RIM Mapping" }, { "identity": "w5", "uri": "http://hl7.org/fhir/fivews", "name": "FiveWs Pattern Mapping" }, { "identity": "sct-attr", "uri": "http://snomed.org/attributebinding", "name": "SNOMED CT Attribute Binding" } ], "kind": "resource", "abstract": false, "type": "Observation", "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant", "derivation": "constraint", "snapshot": { "extension": [ { "url": "http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version", "valueString": "3.0.0" } ] }, "differential": { "element": [ { "id": "Observation", "path": "Observation" }, { "id": "Observation.subject", "path": "Observation.subject", "requirements": "subject is required.", "min": 1 }, { "id": "Observation.effective[x]", "path": "Observation.effective[x]", "requirements": "effectiveDatetime is required.", "min": 1, "type": [ { "code": "dateTime" } ] }, { "id": "Observation.component", "path": "Observation.component", "requirements": "There must be at least one component.", "min": 2 }, { "id": "Observation.component:gene-studied", "path": "Observation.component", "sliceName": "gene-studied", "sliceIsConstraining": true, "requirements": "gene-studied slice is required. May be repeated to indicate multiple genes (ie. \"fusion\" scenario).", "min": 1, "max": "2" }, { "id": "Observation.component:gene-studied.value[x]", "path": "Observation.component.value[x]", "type": [ { "code": "CodeableConcept" } ], "binding": { "strength": "required", "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs" } }, { "id": "Observation.component:coding-change-type", "path": "Observation.component", "sliceName": "coding-change-type", "sliceIsConstraining": true, "definition": "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": "coding-change-type slice is required.", "min": 1 }, { "id": "Observation.component:coding-change-type.value[x]", "path": "Observation.component.value[x]", "type": [ { "code": "CodeableConcept" } ], "binding": { "strength": "required", "valueSet": "http://deep6.ai/fhir/ValueSet/deep-6-ai-dna-change-type" } } ] } }