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. For a full list of available versions, see the Directory of published versions

Beispiel Procedure: Genomic Study Analysis Cornelia de Lange Panel

German

Genomic Study Analysis Specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24

Genomic Study Analysis Device

Genomic Study Analysis Method Type: Sequencing

Genomic Study Analysis Regions

  • description: Cornelia de Lange Panel: Alle kodierenden Exons der Gene NIPBL, HDAC8, RAD21, SMC1A, SMC3, TP63
  • studied: NIPBL
  • studied: HDAC8
  • studied: RAD21
  • studied: SMC1A
  • studied: SMC3
  • studied: TP63

status: Completed

category: Laboratory

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))