ERDRI-CDS - The age at which the condition was diagnosed.
ERDRI-CDS - The age at which the condition first appeared.
ERDRI-CDS - Agreement to be contacted for research purposes.
The patient's place of birth.
The ICD-10 code representing the cause of death.
The SNOMED CT definition of the cause of death concept.
The cause of death for the patient.
Indicates whether there is consanguinity in the family relationship.
ERDRI-CDS - Consent to the reuse of data.
The date of the patient's admission.
Captures modifiers for the phenotypic feature, such as severity or specific classifications.
Captures the status of a phenotypic feature, such as confirmed present or refuted.
Indicates whether the family member is the propositus.
A RareLink-specific Condition profile for documenting undiagnosed rare disease cases based on the IPS Condition profile.
A RareLink-specific Consent profile based on the Consent resource.
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).
A RareLink-specific Encounter profile based on the Encounter resource.
A RareLink-specific FamilyMemberHistory profile based on the FamilyMemberHistory resource.
A RareLink-specific profile for documenting genetic findings (genetic_findings.variant), based on the HL7 Genomics Reporting variant profile.
A RareLink-specific Condition profile based on the IPS Condition profile.
A RareLink-specific profile for laboratory measurements based on the IPS Observation profile.
A RareLink-specific profile for radiology measurements based on the IPS Observation profile.
A RareLink-specific profile for the IPS Patient resource.
A RareLink-specific profile for the IPS Procedure resource.
A RareLink-specific profile for capturing karyotypic sex information.
A RareLink-specific profile for capturing the age category of a patient as an observation, based on the ERDRI-CDS value set.
A RareLink-specific profile for capturing gestation length at birth.
A RareLink-specific profile for measurements that do not fall under IPS laboratory, radiology, procedures, or vital signs.
A RareLink-specific profile for vital signs measurements.
A RareLink-specific profile for capturing phenotypic features.
The sex assigned to the patient at birth.
The date when the phenotypic feature resolved.
Coded representation of a patient's vital status