Table 1 Sample sizes obtained for some of the rare disorders. For each of the rare diseases we identified in the UK Biobank, we provide the set of ICD-10 codes that map directly to the codes from Orphanet, such that the ORPHA code is no more specific that the ICD-10 codes. We then provide the number of individuals with that rare disease in the UK Biobank (UKB count) along with the group the disease belongs to, based on its ICD-10 chapter
From: Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
Disease name | ORPHA code | ICD-10 code | UKB count | Group |
|---|---|---|---|---|
Addison’s disease | 85138 | E27.1 | 242 | Endocrine/metabolic |
Waldenström macroglobulinemia | 33226 | C88.0 | 109 | Neoplasms |
Marfan syndrome | 558 | Q87.4 | 93 | Congenital |
Beta-thalassemia | 848 | D56.1 | 71 | Blood |
Autosomal dominant tubulointerstitial kidney | 34149 | Q61.5 | 41 | Congenital |
Congenital ptosis | 91411 | Q10.0 | 31 | Congenital |
Tetralogy of Fallot | 3303 | Q21.3 | 19 | Congenital |
Congenital renal artery stenosis | 97598 | Q27.1 | 7 | Congenital |
Autosomal dominant epidermolytic ichthyosis | 312 | Q80.3 | <5 | Congenital |
Fragile X syndrome | 908 | Q99.2 | <5 | Congenital |
Reye syndrome | 3096 | G93.7 | <5 | Neurological |