Value set for capturing age at diagnosis.
Value set for capturing age at onset.
Value set for capturing the age category of a patient.
Value set for capturing the age of onset for phenotypes.
Value set for capturing agreement to be contacted for research.
LOINC LA codes for the clinical significance of a variant.
Value set for indicating whether there is consanguinity in the family relationship.
Value set for capturing consent to reuse data.
LOINC LA codes enumerating various DNA change types.
Value set for encounter classes, including custom RareLink-specific codes.
Value set for capturing family member relationships.
Value set for capturing the sex of a family member.
LOINC LA codes enumerating germline, somatic, fetal, etc.
Value set for capturing karyotypic sex.
LOINC LA codes describing evidence strength for a variant.
Value set for capturing phenotype severity.
Value set for capturing phenotype status.
Value set for indicating whether the family member is the propositus.
LOINC LA codes specifying the reference genome build.
Value set for severity levels of conditions.
Value set for capturing the sex assigned at birth.
LOINC LA codes enumerating methods for detecting structural variants.
Value set for capturing the temporal pattern of phenotypic features.
Value set for capturing undiagnosed rare disease cases.
Value set for capturing the vital status of the patient.
LOINC LA codes enumerating various zygosity states.