• Age at Diagnosis Value Set

    Value set for capturing age at diagnosis.

  • Age at Onset Value Set

    Value set for capturing age at onset.

  • Age Category Value Set

    Value set for capturing the age category of a patient.

  • Age of Onset Value Set

    Value set for capturing the age of onset for phenotypes.

  • Agreement to Be Contacted Value Set

    Value set for capturing agreement to be contacted for research.

  • Clinical Significance Value Set

    LOINC LA codes for the clinical significance of a variant.

  • Consanguinity Value Set

    Value set for indicating whether there is consanguinity in the family relationship.

  • Consent to Reuse Data Value Set

    Value set for capturing consent to reuse data.

  • DNA Change Type Value Set

    LOINC LA codes enumerating various DNA change types.

  • Encounter Class Value Set

    Value set for encounter classes, including custom RareLink-specific codes.

  • Family Relationship Value Set

    Value set for capturing family member relationships.

  • Family Member Sex Value Set

    Value set for capturing the sex of a family member.

  • Genomic Source Class Value Set

    LOINC LA codes enumerating germline, somatic, fetal, etc.

  • Karyotypic Sex Value Set

    Value set for capturing karyotypic sex.

  • Level of Evidence Value Set

    LOINC LA codes describing evidence strength for a variant.

  • Phenotype Severity Value Set

    Value set for capturing phenotype severity.

  • Phenotype Status Value Set

    Value set for capturing phenotype status.

  • Propositus Value Set

    Value set for indicating whether the family member is the propositus.

  • Reference Genome Value Set

    LOINC LA codes specifying the reference genome build.

  • Severity Value Set

    Value set for severity levels of conditions.

  • Sex at Birth Value Set

    Value set for capturing the sex assigned at birth.

  • Structural Variant Method Value Set

    LOINC LA codes enumerating methods for detecting structural variants.

  • Temporal Pattern Value Set

    Value set for capturing the temporal pattern of phenotypic features.

  • Undiagnosed Rare Disease Case Value Set

    Value set for capturing undiagnosed rare disease cases.

  • Vital Status Value Set

    Value set for capturing the vital status of the patient.

  • Zygosity Value Set

    LOINC LA codes enumerating various zygosity states.