• RareLink Condition for Undiagnosed RD Case

    A RareLink-specific Condition profile for documenting undiagnosed rare disease cases based on the IPS Condition profile.

  • RareLink Consent

    A RareLink-specific Consent profile based on the Consent resource.

  • RareLink Diagnostic Implication Observation

    A RareLink-specific profile extending the HL7 Genomics Reporting 'diagnostic-implication' profile for documenting diagnostic significance, evidence levels, and associated phenotypes (genetic_findings.diagnostic_implication).

  • RareLink Encounter

    A RareLink-specific Encounter profile based on the Encounter resource.

  • RareLink Family History

    A RareLink-specific FamilyMemberHistory profile based on the FamilyMemberHistory resource.

  • RareLink Genetic Variant Observation

    A RareLink-specific profile for documenting genetic findings (genetic_findings.variant), based on the HL7 Genomics Reporting variant profile.

  • RareLink IPS Condition

    A RareLink-specific Condition profile based on the IPS Condition profile.

  • RareLink IPS Measurement Laboratory

    A RareLink-specific profile for laboratory measurements based on the IPS Observation profile.

  • RareLink IPS Measurement Radiology

    A RareLink-specific profile for radiology measurements based on the IPS Observation profile.

  • RareLink IPS Patient

    A RareLink-specific profile for the IPS Patient resource.

  • RareLink IPS Procedure

    A RareLink-specific profile for the IPS Procedure resource.

  • RareLink Observation Age Category

    A RareLink-specific profile for capturing the age category of a patient as an observation, based on the ERDRI-CDS value set.

  • RareLink Observation Gestation at Birth

    A RareLink-specific profile for capturing gestation length at birth.

  • RareLink Observation Karyotypic Sex

    A RareLink-specific profile for capturing karyotypic sex information.

  • RareLink Observation Measurements (Others)

    A RareLink-specific profile for measurements that do not fall under IPS laboratory, radiology, procedures, or vital signs.

  • RareLink Observation Phenotypic Feature

    A RareLink-specific profile for capturing phenotypic features.

  • RareLink Vital Signs Measurements

    A RareLink-specific profile for vital signs measurements.