MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Beispiel Procedure: Genomic Study Analysis TruRisk Panel v3

German

Genomic Study Analysis Specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_03; status = available; type = Tissue specimen from breast (specimen); receivedTime = 2022-11-01

Genomic Study Analysis Device

Genomic Study Analysis Method Type: Sequencing

Genomic Study Analysis Regions

  • description: TruRisk Panel v3: Alle kodierenden Exons der Core-Gene für erblichen Brust- und Eierstockkrebs
  • studied: ATM
  • studied: BRCA1
  • studied: BARD1
  • studied: BRCA2
  • studied: BRIP1
  • studied: CDH1
  • studied: CHEK2
  • studied: MLH1
  • studied: MSH2
  • studied: MSH6
  • studied: PALB2
  • studied: PMS2
  • studied: PTEN
  • studied: RAD51C
  • studied: RAD51D
  • studied: TP53

status: Completed

category: Laboratory

subject: Elisa Schmidt-Huber (official) Female, DoB: 1973-03-12 ( Krankenaktennummer (use: usual, ))