• Age at Diagnosis

    ERDRI-CDS - The age at which the condition was diagnosed.

  • Age at Onset

    ERDRI-CDS - The age at which the condition first appeared.

  • Agreement to Be Contacted

    ERDRI-CDS - Agreement to be contacted for research purposes.

  • Birth Place

    The patient's place of birth.

  • Cause of Death

    The cause of death for the patient.

  • Cause of Death Code

    The ICD-10 code representing the cause of death.

  • Cause of Death Definition

    The SNOMED CT definition of the cause of death concept.

  • Consanguinity

    Indicates whether there is consanguinity in the family relationship.

  • Consent to Reuse Data

    ERDRI-CDS - Consent to the reuse of data.

  • Date of Admission

    The date of the patient's admission.

  • Phenotype Modifier

    Captures modifiers for the phenotypic feature, such as severity or specific classifications.

  • Phenotype Status

    Captures the status of a phenotypic feature, such as confirmed present or refuted.

  • Propositus

    Indicates whether the family member is the propositus.

  • 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 Karyotypic Sex

    A RareLink-specific profile for capturing karyotypic sex information.

  • 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 Measurements (Others)

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

  • RareLink Vital Signs Measurements

    A RareLink-specific profile for vital signs measurements.

  • RareLink Observation Phenotypic Feature

    A RareLink-specific profile for capturing phenotypic features.

  • Recorded Sex at Birth

    The sex assigned to the patient at birth.

  • Resolution Date

    The date when the phenotypic feature resolved.

  • Vital Status

    Coded representation of a patient's vital status