TABLE 2.
Relative abundance of unique diagnoses appearing in participant EHRs. Shaded diagnoses are considered to be sufficiently specific for clinical purposes.
| Diagnoses | N | % | ICD-9-CM | ICD-10-CM |
|---|---|---|---|---|
| Genetic susceptibility to malignant neoplasm of breast | 59 | 15.3 | Z15.01 | |
| Genetic susceptibility to other malignant neoplasm | 54 | 14.0 | Z15.09 | |
| Genetic susceptibility to malignant neoplasm of ovary | 39 | 10.1 | Z15.02 | |
| Genetic susceptibility to malignant neoplasm of breast | 29 | 7.5 | V84.01 | Z15.01 |
| BRCA2 gene mutation positive in female | 16 | 4.2 | V84.01, V84.02, V84.09 | Z15.01, Z15.02, Z15.09 |
| Familial hypercholesterolemia | 14 | 3.6 | E78.01 | |
| BRCA2 positive | 13 | 3.4 | V84.01 | Z15.01, Z15.09 |
| Familial hypercholesterolemia | 11 | 2.9 | 272 | E78.01 |
| Lynch syndrome | 11 | 2.9 | V84.09 | Z15.09 |
| Genetic susceptibility to malignant neoplasm of ovary | 10 | 2.6 | V84.02 | Z15.02 |
| BRCA1 positive | 10 | 2.6 | V84.01 | Z15.01, Z15.09 |
| Breast cancer genetic susceptibility | 9 | 2.3 | V84.01 | Z15.01 |
| BRCA gene mutation positive in female | 9 | 2.3 | V84.01, V84.02, V84.09 | Z15.01, Z15.02, Z15.09 |
| BRCA gene mutation positive | 9 | 2.3 | V84.01, V84.02 | Z15.01, Z15.09 |
| BRCA positive | 8 | 2.1 | V84.01, V84.02 | Z15.01, Z15.09 |
| BRCA2 genetic carrier | 8 | 2.1 | V84.01 | Z15.01, Z15.09 |
| BRCA2 gene mutation positive | 8 | 2.1 | V84.01 | Z15.01, Z15.09 |
| BRCA gene positive | 7 | 1.8 | V84.01, V84.02 | Z15.01, Z15.09 |
| Genetic susceptibility to other malignant neoplasm | 6 | 1.6 | V84.09 | Z15.09 |
| BRCA1 gene mutation positive | 6 | 1.6 | V84.01 | Z15.01, Z15.09 |
| Genetic susceptibility to malignant neoplasm of prostate | 5 | 1.3 | Z15.03 | |
| Genetic susceptibility to breast cancer | 4 | 1.0 | V84.01 | Z15.01 |
| Genetic carrier of other disease | 3 | 0.8 | Z14.8 | |
| PMS2-related Lynch syndrome (HNPCC4) | 3 | 0.8 | V84.09 | Z15.09 |
| BRCA gene mutation positive in male | 3 | 0.8 | V84.01, V84.09, V84.03 | Z15.01, Z15.03, Z15.09 |
| BRCA1 gene mutation positive in female | 3 | 0.8 | V84.01, V84.02, V84.09 | Z15.01, Z15.02, Z15.09 |
| BRCA2 gene mutation positive in male | 3 | 0.8 | V84.01, V84.03, V84.09 | Z15.01, Z15.03, Z15.09 |
| Other genetic carrier status (V83.89) | 2 | 0.5 | V83.89 | Z14.8 |
| Genetic predisposition to breast cancer | 2 | 0.5 | V84.01 | Z15.01 |
| Abnormal genetic test | 2 | 0.5 | 795.2 | R89.8 |
| Carrier of gene for Lynch syndrome | 2 | 0.5 | V83.89 | Z14.8 |
| BRCA1 gene mutation positive in male | 2 | 0.5 | V84.01, V84.03, V84.09 | Z15.01, Z15.09, Z15.03 |
| Genetic predisposition to malignant neoplasm of breast | 1 | 0.3 | V84.01 | Z15.01 |
| Genetic susceptibility to ovarian cancer | 1 | 0.3 | V84.02 | Z15.02 |
| Genetic predisposition to ovarian cancer | 1 | 0.3 | V84.02 | Z15.02 |
| Genetic predisposition to disease | 1 | 0.3 | V84.89 | Z15.89 |
| BRCA1 genetic carrier | 1 | 0.3 | V84.01 | Z15.01, Z15.09 |
| Genetic susceptibility to other disease | 1 | 0.3 | Z15.89 | |
| Breast cancer, BRCA2 positive, unspecified laterality (HCC) | 1 | 0.3 | 174.9, V84.01 | C50.919, Z15.02, Z15.09 |
| Other genetic carrier status | 1 | 0.3 | V83.89 | Z14.8 |
| Monoallelic mutation of PMS2 gene | 1 | 0.3 | V84.09 | Z15.09 |
| PMS2 deficiency | 1 | 0.3 | 758.5 | Q99.8 |
| MSH6-related endometrial cancer (HCC) | 1 | 0.3 | 182 | C54.1 |
| MSH6-related Lynch syndrome (HNPCC5) | 1 | 0.3 | V84.09 | Z15.09 |
| BRCA gene mutation test positive | 1 | 0.3 | V84.01 | Z15.01, Z15.09 |
| Familial hypercholesterolemia due to heterozygous low density lipoprotein (LDL) receptor mutation | 1 | 0.3 | 272 | E78.01 |
| Familial hypercholesterolemia due to homozygous low density lipoprotein (LDL) receptor mutation | 1 | 0.3 | 272 | E78.01 |
| Summary | ||||
| specific diagnoses (grey highlighted) | 93 | 24.2 | NA | NA |
| non-specific diagnoses | 292 | 75.8 | NA | NA |