MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) 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 Condition: SMA Verdacht - Neugeborenenscreening

German

Profile: MII PR SE Clinical Diagnosis version: 2027.0.0-ballot

Condition Asserted Date: 2024-07-18

clinicalStatus: Active

verificationStatus: Unconfirmed

category: Encounter Diagnosis

code: Verdacht auf Spinale Muskelatrophie

subject: Anonymous Patient Female, DoB: 2024-07-01 ( https://www.medizininformatik-initiative.de/fhir/sid/patient-id#SMA-2024-001)

encounter: Encounter: status = finished; class = ambulatory (ActCode#AMB); type = Neonatal screening (procedure); period = 2024-07-18 --> 2024-07-18; reasonCode =

recordedDate: 2024-07-18

Evidences

-CodeDetail
*Positives NeugeborenenscreeningObservation Spinal muscular atrophy newborn screening panel

note:

Verdacht beim Neugeborenenscreening gestellt - SMN1 Exon 7 nicht nachweisbar