description: Dieses Profil beschreibt den Zusammenhang zwischen einem oder mehreren Genotyp/Haplotyp/Varianten und Beweisen für oder gegen eine bestimmte Krankheit.
package_name: de.medizininformatikinitiative.kerndatensatz.molgen
derivation: constraint
name: MII_PR_MolGen_DiagnostischeImplikation
type: Observation
elements:
  extension:
    mustSupport: true
    index: 0
    slicing:
      slices:
        related-artifact:
          match: {}
          schema: {mustSupport: true, index: 0}
  category: {mustSupport: true, index: 1}
  code: {mustSupport: true, index: 2}
  subject:
    type: Reference
    mustSupport: true
    refers: ['http://hl7.org/fhir/StructureDefinition/Group', 'http://hl7.org/fhir/StructureDefinition/Patient']
    index: 3
  encounter: {mustSupport: true, index: 4}
  derivedFrom:
    mustSupport: true
    index: 5
    slicing:
      slices:
        variant:
          match: {}
          schema:
            type: Reference
            refers: ['https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante']
            index: 6
  component:
    mustSupport: true
    index: 7
    slicing:
      slices:
        conclusion-string:
          match: {}
          schema: {mustSupport: true, index: 8}
        evidence-level:
          match: {}
          schema: {mustSupport: true, index: 9}
        predicted-phenotype:
          match: {}
          schema: {mustSupport: true, index: 10}
        mode-of-inheritance:
          match: {}
          schema: {mustSupport: true, index: 11}
        clinical-significance:
          match: {}
          schema: {mustSupport: true, index: 12}
        functional-effect:
          match: {}
          schema: {mustSupport: true, index: 13}
package_version: 2025.0.0
extensions:
  related-artifact: {url: null, mustSupport: true, index: 0}
class: profile
kind: resource
url: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation
base: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication
version: 2025.0.0