{
  "description": "Dieses Profil beschreibt den Zusammenhang zwischen einem oder mehreren Genotyp/Haplotyp/Varianten und Beweisen für oder gegen eine bestimmte Krankheit.",
  "_filename": "StructureDefinition-mii-pr-molgen-diagnostische-implikation.json",
  "package_name": "de.medizininformatikinitiative.kerndatensatz.molgen",
  "date": null,
  "derivation": "constraint",
  "publisher": "Medizininformatik Initiative",
  "fhirVersion": "4.0.1",
  "name": "MII_PR_MolGen_DiagnostischeImplikation",
  "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 Diagnostische Implikation",
  "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": "61fff94f-3815-488c-b4d0-8d6a338b748d",
  "kind": "resource",
  "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation",
  "version": "1.0.0",
  "differential": {
    "element": [ {
      "id": "Observation.extension:related-artifact",
      "path": "Observation.extension",
      "sliceName": "related-artifact",
      "mustSupport": true
    }, {
      "id": "Observation.category",
      "path": "Observation.category",
      "mustSupport": true
    }, {
      "id": "Observation.code",
      "path": "Observation.code",
      "mustSupport": true
    }, {
      "id": "Observation.subject",
      "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.derivedFrom",
      "path": "Observation.derivedFrom",
      "mustSupport": true
    }, {
      "id": "Observation.derivedFrom:variant",
      "path": "Observation.derivedFrom",
      "type": [ {
        "code": "Reference",
        "targetProfile": [ "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante" ]
      } ],
      "sliceName": "variant"
    }, {
      "id": "Observation.component",
      "path": "Observation.component",
      "mustSupport": true
    }, {
      "id": "Observation.component:conclusion-string",
      "path": "Observation.component",
      "sliceName": "conclusion-string",
      "mustSupport": true
    }, {
      "id": "Observation.component:evidence-level",
      "path": "Observation.component",
      "mapping": [ {
        "map": "mide-dataelement-1720",
        "comment": "Clinical Annotation Level Of Evidence",
        "identity": "MII-KDS"
      } ],
      "sliceName": "evidence-level",
      "mustSupport": true
    }, {
      "id": "Observation.component:predicted-phenotype",
      "path": "Observation.component",
      "sliceName": "predicted-phenotype",
      "mustSupport": true
    }, {
      "id": "Observation.component:mode-of-inheritance",
      "path": "Observation.component",
      "sliceName": "mode-of-inheritance",
      "mustSupport": true
    }, {
      "id": "Observation.component:clinical-significance",
      "path": "Observation.component",
      "mapping": [ {
        "map": "mide-dataelement-2015",
        "comment": "Klinische Signifikanz",
        "identity": "MII-KDS"
      } ],
      "sliceName": "clinical-significance",
      "mustSupport": true
    }, {
      "id": "Observation.component:functional-effect",
      "path": "Observation.component",
      "sliceName": "functional-effect",
      "mustSupport": true
    } ]
  },
  "contact": [ {
    "telecom": [ {
      "value": "https://www.medizininformatik-initiative.de",
      "system": "url"
    } ]
  } ],
  "baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"
}