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.