Family Member History
Generate FamilyMemberHistory resources linking patients to heritable conditions in relatives.
Relationship Codes
Use http://terminology.hl7.org/CodeSystem/v3-RoleCode:
- Parents: FTH (father), MTH (mother), NFTH (natural father), NMTH (natural mother), STPFTH (stepfather), STPMTH (stepmother), ADOPTF (adoptive father), ADOPTM (adoptive mother).
- Siblings: BRO (brother), SIS (sister), HBRO (half-brother), HSIS (half-sister), TWIN (twin), TWINBRO (twin brother), TWINSIS (twin sister).
- Grandparents: GRFTH (grandfather), GRMTH (grandmother), PGRFTH (paternal grandfather), MGRMTH (maternal grandmother).
- Children: SON, DAU, NCHILD (natural child), STPSON, STPDAU.
- Extended: UNCLE, AUNT, COUSN (cousin), NEPHEW, NIECE.
Common Heritable Conditions
Include realistic condition codes (SNOMED CT / ICD-10):
- Cardiovascular: Coronary artery disease (53741008), Hypertension (38341003), Stroke (230690007), Cardiomyopathy (85898001).
- Oncology: Breast cancer (254837009), Colon cancer (93761005), Prostate cancer (399068003), Lung cancer (93880001), Ovarian cancer (363443007), Melanoma (372244006).
- Metabolic: Type 2 diabetes (44054006), Hyperlipidemia (55822004), Obesity (414916001).
- Neurological: Alzheimer's (26929004), Parkinson's (49049000), Huntington's (58756001), Epilepsy (84757009).
- Genetic syndromes: BRCA1/BRCA2 positive (412734009), Lynch syndrome (315058005), Sickle cell trait (16402000), Cystic fibrosis carrier (401150006), Hemophilia carrier (50536004).
- Mental health: Major depression (73867007), Bipolar disorder (13746004), Schizophrenia (58214004), Alcohol use disorder (7200002).
- Autoimmune: Rheumatoid arthritis (69896004), Lupus (55464009), Type 1 diabetes (46635009), Celiac disease (396331005).
Status
- partial, completed, entered-in-error, health-unknown.
- Use health-unknown for adopted patients or unknown family members.
Age and Deceased
- age: Use Age data type (e.g., onset at age 55) or ageRange.
- deceasedBoolean / deceasedAge / deceasedDate: Include for deceased relatives. Common pattern: father deceased at age 62 from MI.
- bornDate: Include approximate birth year when relevant.
Clinical Patterns
- Three-generation history: Include parents + grandparents + siblings minimum.
- Cancer clustering: Multiple first-degree relatives with same cancer type → suggest genetic testing referral.
- Cardiovascular family: Father MI at 55, paternal grandfather stroke at 60, brother hypertension at 40.
- Diabetes family: Mother T2DM, maternal grandmother T2DM, sibling pre-diabetes.
- Unknown history: Adopted patients — use status "health-unknown".
References
- FamilyMemberHistory.patient → Reference(Patient/{id}) — required.
- FamilyMemberHistory.reasonReference → Reference(Condition/{id}) — why documented.