Table 2.
Number of Rare Diseases Included in Matched Codes from Source Terminologies.
| # rare diseases matching to a code | # ICD-9-CM codes (% of total codes) | # ICD-10-CM codes (% of total codes) | # SNOMED CT codes (% of total codes) |
|---|---|---|---|
| 1 (unique match) | 1081 (62%) | 1403 (73%) | 3311 (85%) |
| 2 | 319 | 328 | 478 |
| 3 | 125 | 88 | 84 |
| 4 | 68 | 45 | 33 |
| 5 | 43 | 25 | 3 |
| > 5 | 117 | 40 | 0 |
| # codes matching to > 1 disease (% of total codes) (multiple match) | 672 (38%) | 526 (27%) | 598 (15%) |
| Examples | 208 rare diseases matched to 759.89 Other specified congenital anomalies | 22 rare diseases matched to Q82.8 Other specified congenital malformations of skin | 5 rare diseases matched to 28835009 Retinitis pigmentosa |