{ "resourceType" : "OperationDefinition", "id" : "find-subject-dx-implications", "text" : { "status" : "generated", "div" : "

Generated Narrative: OperationDefinition find-subject-dx-implications

Parameters

UseNameScopeCardinalityTypeBindingDocumentation
INsubject1..1string
(reference)

The subject of interest.

\n
INvariants0..*string
(string)

List of variants from which implications are derived. Must be in HGVS or SPDI format.

\n
INranges0..*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').

\n
INconditions0..*string
(token)

List of conditions for which implications are sought. Must be in token or codesystem|code format.

\n
INtestIdentifiers0..*string
(token)

Supply a list of test identifiers. Only results originating from one of these tests will be returned.

\n
INtestDateRange0..1Period

Supply a date range. Only results generated during this range will be returned.

\n
INspecimenIdentifiers0..*string
(token)

Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.

\n
INgenomicSourceClass0..1string
(token)

Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.

\n
OUTimplication0..*Observation

Implications must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication]. The target(s) of the implication's derivedFrom shall also be included in the response.

\n
OUTvariant0..*Observation

Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant].

\n
" }, "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-dx-implications", "version" : "4.0.0-cibuild", "name" : "FindSubjectDxImplications", "title" : "Find Subject Diagnostic Implications", "status" : "active", "kind" : "operation", "date" : "2026-01-30T18:21:39+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 genetic diagnostic implications for variants.", "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 implications 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" : "conditions", "use" : "in", "min" : 0, "max" : "*", "documentation" : "List of conditions for which implications are sought. Must be in token or codesystem|code format.", "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/diagnostic-implication" }], "name" : "implication", "use" : "out", "min" : 0, "max" : "*", "documentation" : "Implications must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication]. The target(s) of the implication'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" }] }