{ "description": "Dieses Profil beschreibt die Feststellung eines bestimmten Genotyps auf der Grundlage einer oder mehrerer Varianten oder Haplotypen.", "_filename": "StructureDefinition-mii-pr-molgen-genotyp.json", "package_name": "de.medizininformatikinitiative.kerndatensatz.molgen", "date": null, "derivation": "constraint", "publisher": "Medizininformatik Initiative", "fhirVersion": "4.0.1", "name": "MII_PR_MolGen_Genotyp", "mapping": [ { "uri": "http://hl7.org/fhir/workflow", "name": "Workflow Pattern", "identity": "workflow" }, { "uri": "http://snomed.info/conceptdomain", "name": "SNOMED CT Concept Domain Binding", "identity": "sct-concept" }, { "uri": "http://hl7.org/v2", "name": "HL7 v2 Mapping", "identity": "v2" }, { "uri": "http://hl7.org/v3", "name": "RIM Mapping", "identity": "rim" }, { "uri": "http://hl7.org/fhir/fivews", "name": "FiveWs Pattern Mapping", "identity": "w5" }, { "uri": "http://snomed.org/attributebinding", "name": "SNOMED CT Attribute Binding", "identity": "sct-attr" }, { "name": "MII KDS Mapping", "identity": "MII-KDS" } ], "abstract": false, "type": "Observation", "experimental": null, "resourceType": "StructureDefinition", "title": "MII PR MolGen Genotyp", "package_version": "1.0.0", "extension": [ { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-category", "valueString": "Clinical.Diagnostics" }, { "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-security-category", "valueCode": "patient" } ], "status": "active", "id": "725f7703-5544-4c50-9263-7ed4a2c6c977", "kind": "resource", "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp", "version": "1.0.0", "differential": { "element": [ { "id": "Observation.status", "path": "Observation.status", "mustSupport": true }, { "id": "Observation.category", "path": "Observation.category", "mustSupport": true }, { "id": "Observation.code", "path": "Observation.code", "mustSupport": true }, { "id": "Observation.subject", "min": 1, "path": "Observation.subject", "type": [ { "code": "Reference", "profile": [ "https://www.medizininformatik-initiative.de/fhir/core/StructureDefinition/MII-Reference" ], "targetProfile": [ "http://hl7.org/fhir/StructureDefinition/Patient", "http://hl7.org/fhir/StructureDefinition/Group" ] } ], "mustSupport": true }, { "id": "Observation.encounter", "path": "Observation.encounter", "mustSupport": true }, { "id": "Observation.value[x]", "path": "Observation.value[x]", "mustSupport": true }, { "id": "Observation.derivedFrom", "path": "Observation.derivedFrom", "mustSupport": true }, { "id": "Observation.component", "path": "Observation.component", "mustSupport": true }, { "id": "Observation.component:conclusion-string", "path": "Observation.component", "sliceName": "conclusion-string", "mustSupport": true }, { "id": "Observation.component:gene-studied", "path": "Observation.component", "mapping": [ { "map": "mide-dataelement-1400", "comment": "Getestete Gene ID", "identity": "MII-KDS" } ], "sliceName": "gene-studied", "mustSupport": true }, { "id": "Observation.component:cytogenetic-location", "path": "Observation.component", "mapping": [ { "map": "mide-dataelement-1434", "comment": "Zytogenetische Lokalisierung (Lokus)", "identity": "MII-KDS" } ], "sliceName": "cytogenetic-location", "mustSupport": true }, { "id": "Observation.component:reference-sequence-assembly", "path": "Observation.component", "mapping": [ { "map": "mide-dataelement-1788", "comment": "Referenzgenom", "identity": "MII-KDS" } ], "sliceName": "reference-sequence-assembly", "mustSupport": true } ] }, "contact": [ { "telecom": [ { "value": "https://www.medizininformatik-initiative.de", "system": "url" } ] } ], "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype" }