Package | hl7.fhir.uv.genomics-reporting |
Resource Type | OperationDefinition |
Id | find-subject-molecular-consequences |
FHIR Version | R4 |
Source | http://hl7.org/fhir/uv/genomics-reporting/https://build.fhir.org/ig/HL7/genomics-reporting/OperationDefinition-find-subject-molecular-consequences.html |
URL | http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-molecular-consequences |
Version | 4.0.0-ballot |
Status | active |
Date | 2025-06-24T17:31:37+00:00 |
Name | FindSubjectMolecularConsequences |
Title | Find Subject Molecular Consequences |
Realm | uv |
Authority | hl7 |
Description | Retrieves molecular consequences of a DNA variant. |
Type | true |
Kind | operation |
No resources found
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Note: links and images are rebased to the (stated) source
Generated Narrative: OperationDefinition find-subject-molecular-consequences
Use | Name | Scope | Cardinality | Type | Binding | Documentation |
IN | subject | 1..1 | string (reference) | The subject of interest. | ||
IN | variants | 0..* | string (string) | List of variants from which consequences are derived. Must be in HGVS or SPDI format. | ||
IN | ranges | 0..* | string (special) | List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820'). | ||
IN | featureConsequences | 0..* | string (token) | List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537) | ||
IN | testIdentifiers | 0..* | string (token) | Supply a list of test identifiers. Only results originating from one of these tests will be returned. | ||
IN | testDateRange | 0..1 | Period | Supply a date range. Only results generated during this range will be returned. | ||
IN | specimenIdentifiers | 0..* | string (token) | Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned. | ||
IN | genomicSourceClass | 0..1 | string (token) | Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class. | ||
OUT | consequence | 0..* | Observation | Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response. | ||
OUT | variant | 0..* | Observation | Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant]. |
{ "resourceType": "OperationDefinition", "id": "find-subject-molecular-consequences", "text": { "status": "generated", "div": "<!-- snip (see above) -->" }, "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode": "cg" }, { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm", "valueInteger": 2, "_valueInteger": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom", "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" } ] } }, { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status", "valueCode": "trial-use", "_valueCode": { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom", "valueCanonical": "http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting" } ] } } ], "url": "http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-molecular-consequences", "version": "4.0.0-ballot", "name": "FindSubjectMolecularConsequences", "title": "Find Subject Molecular Consequences", "status": "active", "kind": "operation", "date": "2025-06-24T17:31:37+00:00", "publisher": "HL7 International / Clinical Genomics", "contact": [ { "name": "HL7 International / Clinical Genomics", "telecom": [ { "system": "url", "value": "http://www.hl7.org/Special/committees/clingenomics" }, { "system": "email", "value": "cg@lists.HL7.org" } ] } ], "description": "Retrieves molecular consequences of a DNA variant.", "jurisdiction": [ { "coding": [ { "system": "http://unstats.un.org/unsd/methods/m49/m49.htm", "code": "001", "display": "World" } ] } ], "code": "match", "system": false, "type": true, "instance": false, "parameter": [ { "name": "subject", "use": "in", "min": 1, "max": "1", "documentation": "The subject of interest.", "type": "string", "searchType": "reference" }, { "name": "variants", "use": "in", "min": 0, "max": "*", "documentation": "List of variants from which consequences are derived. Must be in HGVS or SPDI format.", "type": "string", "searchType": "string" }, { "name": "ranges", "use": "in", "min": 0, "max": "*", "documentation": "List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').", "type": "string", "searchType": "special" }, { "name": "featureConsequences", "use": "in", "min": 0, "max": "*", "documentation": "List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)", "type": "string", "searchType": "token" }, { "name": "testIdentifiers", "use": "in", "min": 0, "max": "*", "documentation": "Supply a list of test identifiers. Only results originating from one of these tests will be returned.", "type": "string", "searchType": "token" }, { "name": "testDateRange", "use": "in", "min": 0, "max": "1", "documentation": "Supply a date range. Only results generated during this range will be returned.", "type": "Period" }, { "name": "specimenIdentifiers", "use": "in", "min": 0, "max": "*", "documentation": "Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.", "type": "string", "searchType": "token" }, { "name": "genomicSourceClass", "use": "in", "min": 0, "max": "1", "documentation": "Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.", "type": "string", "searchType": "token" }, { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile", "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence" } ], "name": "consequence", "use": "out", "min": 0, "max": "*", "documentation": "Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response.", "type": "Observation" }, { "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/operationdefinition-profile", "valueUri": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" } ], "name": "variant", "use": "out", "min": 0, "max": "*", "documentation": "Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant].", "type": "Observation" } ] }