Medical Informatics Initiative - CORD - ImplementationGuide

3 References

The data set for the use case Collaboration on Rare Diseases (CORD-MI) contains references to the following projects:

• Basic modules of the Core data set: PERSON, CASE, DIAGNOSIS, PROCEDURE, MEDICATION und LABORATORY FINDING
• Modules: OMICS (MOLECULAR GENETICS) and SYMPTOM/PHENOTYPE
• Further characteristics are based on the Common Data Set of the European Rare Diseases Registry Infrastructure (ERDRI CDS), the French National Rare Disease Minimum Data Set, the International Patient Summary (IPS)and the German 'U-Heft'
• In addition, the HL7 FHIR Core Specification, including the relevant resources, and previous work on German Base Profiles in STU3 and R4 have been taken into account.

The present specification has been designed on the basis of the dataset description in ART-DECOR.

As classifications and terminologies, ICD-10-GM as well as ORPHAcodes should be supported. As long as the aforementioned modules are filled and a rare diagnosis is indicated (ideally with ORPHAcodes), they are part of the RD documentation.