{ "description": "Stellt einen gefundenden Biomarker dar. Das Profil ist auf Basis von https://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-molecular-biomarker.html nachgebaut.", "_filename": "StructureDefinition-mii-pr-mtb-molekularer-biomarker.json", "package_name": "rs/de.medizininformatikinitiative.kerndatensatz.mtb", "date": null, "derivation": "constraint", "publisher": "Medizininformatik Initiative", "fhirVersion": "4.0.1", "name": "MII_PR_MTB_Molekularer_Biomarker", "abstract": false, "type": "Observation", "experimental": null, "resourceType": "StructureDefinition", "title": "MII PR MTB Molekularer Biomarker", "package_version": "2025.0.0-ballot", "status": "draft", "id": "380f3807-3b60-450e-80d6-d1ca04759a22", "kind": "resource", "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker", "version": "2024.0.0-ballot", "differential": { "element": [ { "id": "Observation.meta", "path": "Observation.meta", "mustSupport": true }, { "id": "Observation.meta.profile", "path": "Observation.meta.profile", "mustSupport": true }, { "id": "Observation.category", "min": 3, "path": "Observation.category", "slicing": { "rules": "open", "ordered": false, "description": "Slices for category", "discriminator": [ { "path": "coding", "type": "value" } ] } }, { "id": "Observation.category:labCategory", "max": "1", "min": 1, "path": "Observation.category", "sliceName": "labCategory", "mustSupport": true }, { "id": "Observation.category:labCategory.coding", "max": "1", "min": 1, "path": "Observation.category.coding", "patternCoding": { "code": "laboratory", "system": "http://terminology.hl7.org/CodeSystem/observation-category" } }, { "id": "Observation.category:geCategory", "max": "1", "min": 1, "path": "Observation.category", "sliceName": "geCategory" }, { "id": "Observation.category:geCategory.coding", "max": "1", "min": 1, "path": "Observation.category.coding", "patternCoding": { "code": "GE", "system": "http://terminology.hl7.org/CodeSystem/v2-0074" } }, { "id": "Observation.category:mbCategory", "max": "1", "min": 1, "path": "Observation.category", "sliceName": "mbCategory" }, { "id": "Observation.category:mbCategory.coding", "max": "1", "min": 1, "path": "Observation.category.coding", "patternCoding": { "code": "biomarker-category", "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" } }, { "id": "Observation.code", "path": "Observation.code", "binding": { "strength": "extensible", "valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-molekulare-biomarker" } }, { "id": "Observation.focus", "path": "Observation.focus", "type": [ { "code": "Reference", "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/StructureDefinition/mii-pr-onko-diagnose-primaertumor", "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-diagnose-primaertumor" ] } ], "mustSupport": true }, { "id": "Observation.derivedFrom", "path": "Observation.derivedFrom", "slicing": { "rules": "open", "ordered": false, "description": "Slices for derivedFrom", "discriminator": [ { "path": "resolve()", "type": "profile" } ] } }, { "id": "Observation.derivedFrom:variant", "max": "*", "min": 0, "path": "Observation.derivedFrom", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant" ] } ], "sliceName": "variant" }, { "id": "Observation.derivedFrom:genotype", "max": "*", "min": 0, "path": "Observation.derivedFrom", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" ] } ], "sliceName": "genotype" }, { "id": "Observation.derivedFrom:haplotype", "max": "*", "min": 0, "path": "Observation.derivedFrom", "type": [ { "code": "Reference", "targetProfile": [ "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/haplotype" ] } ], "sliceName": "haplotype" }, { "id": "Observation.component", "path": "Observation.component", "slicing": { "rules": "open", "ordered": false, "description": "Slices for component", "discriminator": [ { "path": "code", "type": "value" } ] } }, { "id": "Observation.component:gene-studied", "max": "*", "min": 0, "path": "Observation.component", "sliceName": "gene-studied" }, { "id": "Observation.component:gene-studied.code.coding", "path": "Observation.component.code.coding", "patternCoding": { "code": "48018-6", "system": "http://loinc.org" } }, { "id": "Observation.component:gene-studied.value[x]", "path": "Observation.component.value[x]", "slicing": { "rules": "open", "ordered": false, "discriminator": [ { "path": "$this", "type": "type" } ] } }, { "id": "Observation.component:gene-studied.value[x]:valueCodeableConcept", "max": "1", "min": 0, "path": "Observation.component.value[x]", "type": [ { "code": "CodeableConcept" } ], "short": "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": { "strength": "extensible", "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs" }, "sliceName": "valueCodeableConcept" }, { "id": "Observation.component:biomarker-category", "max": "*", "min": 0, "path": "Observation.component", "sliceName": "biomarker-category", "mustSupport": true }, { "id": "Observation.component:biomarker-category.code", "path": "Observation.component.code", "patternCodeableConcept": { "coding": [ { "code": "biomarker-category", "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" } ] } }, { "id": "Observation.component:biomarker-category.value[x]", "path": "Observation.component.value[x]", "type": [ { "code": "CodeableConcept" } ], "binding": { "strength": "preferred", "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-biomarker-category-vs" } } ] }, "contact": [ { "telecom": [ { "value": "https://www.medizininformatik-initiative.de", "system": "url" } ] } ], "baseDefinition": "http://hl7.org/fhir/StructureDefinition/Observation" }