Table 2.
Distribution of rare diseases by nosologic group (ICD-10)
| ICD-10 | n | % | Female | Female% | Male | Male% | 0–18 years | % | > 18 years | % |
|---|---|---|---|---|---|---|---|---|---|---|
| I | 9 | 0.1 | 4 | 0.1 | 5 | 0.1 | 4 | 0.1 | 5 | 0.1 |
| II | 146 | 1.1 | 87 | 1.2 | 59 | 1.0 | 72 | 1.3 | 74 | 1 |
| III | 3455 | 26.1 | 1461 | 20.5 | 1994 | 32.8 | 1357 | 25 | 2098 | 26.9 |
| IV | 2040 | 15.4 | 1046 | 14.7 | 994 | 16.3 | 1222 | 22.5 | 818 | 10.5 |
| V | 128 | 1.0 | 66 | 0.9 | 62 | 1.0 | 52 | 1 | 76 | 1 |
| VI | 2120 | 16.0 | 1191 | 16.7 | 929 | 15.3 | 375 | 6.9 | 1745 | 22.4 |
| VII | 149 | 1.1 | 75 | 1.1 | 74 | 1.2 | 48 | 0.9 | 101 | 1.3 |
| VIII | 39 | 0.3 | 21 | 0.3 | 18 | 0.3 | 8 | 0.1 | 31 | 0.4 |
| IX | 478 | 3.6 | 298 | 4.2 | 180 | 3.0 | 92 | 1.7 | 386 | 5 |
| X | 15 | 0.1 | 8 | 0.1 | 7 | 0.1 | 8 | 0.1 | 7 | 0.1 |
| XI | 457 | 3.5 | 378 | 5.3 | 79 | 1.3 | 25 | 0.5 | 432 | 5.5 |
| XII | 512 | 3.9 | 292 | 4.1 | 220 | 3.6 | 120 | 2.2 | 392 | 5 |
| XIII | 987 | 7.5 | 792 | 11.1 | 195 | 3.2 | 122 | 2.2 | 865 | 11.1 |
| XIV | 32 | 0.2 | 20 | 0.3 | 12 | 0.2 | 17 | 0.3 | 15 | 0.2 |
| XVI | 546 | 4.1 | 261 | 3.7 | 285 | 4.7 | 536 | 9.9 | 10 | 0.1 |
| XVII | 2092 | 15.8 | 1130 | 15.8 | 962 | 15.8 | 1364 | 25.1 | 728 | 9.4 |
| XVIII | 3 | 0.0 | 2 | 0.0 | 1 | 0.0 | 3 | 0.1 | 0 | 0 |
| XIX | 7 | 0.1 | 0 | 0.0 | 7 | 0.1 | 4 | 0.1 | 3 | 0 |
| Total | 13,215 | 100.0 | 7132 | 100 | 6083 | 100 | 5429 | 41.1% | 7786 | 58.9% |
Data corresponds to all living patients affected by rare diseases registered in the health care provider’s system (2015)
International Statistical Classification of Diseases and Related Health Problems (ICD-10): Chapter I (certain infectious and parasitic diseases), Chapter II (neoplasms), Chapter III (diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism), Chapter IV (endocrine, nutritional and metabolic diseases), Chapter V (mental and behavioural disorders), Chapter VI (diseases of the nervous system), Chapter VII (diseases of the eye and adnexa), Chapter VIII (diseases of the ear and mastoid process), Chapter IX (diseases of the circulatory system), Chapter X (diseases of the respiratory system), Chapter XI (diseases of the digestive system), Chapter XII (diseases of the skin and subcutaneous tissue), Chapter XIII (diseases of the musculoskeletal system and connective tissue), Chapter XIV (diseases of the genitourinary system), Chapter XV (pregnancy, childbirth and the puerperium), Chapter XVI (certain conditions originating in the perinatal period), Chapter XVII (congenital malformations, deformations and chromosomal abnormalities), Chapter XVIII (symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified), Chapter XIX (injury, poisoning and certain other consequences of external causes), Chapter XX (external causes of morbidity and mortality), Chapter XXI (factors influencing health status and contact with health services), Chapter XXII (codes for special purposes)