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 Observation: SMA Neugeborenenscreening Ergebnis

German

status: Final

category: Laboratory

code: Spinal muscular atrophy newborn screening panel

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

effective: 2024-07-18

value: Detected

interpretation: Abnormal

note:

Positives SMA-Screening. Konfirmatorische Diagnostik empfohlen.

component

code: Spinal muscular atrophy newborn screen interpretation

value: Hinweis auf SMA - SMN1 Exon 7 Deletion nachgewiesen

component

code: SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection

value: 0 Ct (Details: UCUM code1 = '1')

interpretation: Abnormal