MII IG 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

Example ServiceRequest: Anforderung Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom

English

Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1

identifier: https://www.charite.de/fhir/auftragsnummern/gen_test_02

status: Active

intent: Order

category: Laboratory procedure (procedure)

code: Molekulargenetische Diagnose eines Cornelia de Lange-Syndrom (MIM122470),autosomal dominanter Erbgang

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

authoredOn: 2022-03-16

requester: Practitioner Dr. Linda Rubens(official)

reasonCode: Premature infant (finding), Low birth weight infant (disorder), Fetal microcephaly (disorder), Carrier of muscular dystrophy (finding), Long eyelashes

reasonReference:

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