TABLE 2.
The regional list of life-threatening and chronic progressive rare diseases, leading to a reduction in life expectancy of citizens or their disability.
| No | Rare diseases | Code a |
| 1 | Paroxysmal nocturnal hemoglobinuria | D59.5 |
| 2 | Immune thrombocytopenic purpura (Evans syndrome) | D69.3 |
| 3 | Complement deficiency | D84.1 |
| 4 | Central precocious puberty | E22.8 |
| 5 | Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia) | E70.0, E70.1 |
| 6 | Tyrosinemia | E70.2 |
| 7 | Maple syrup urine disease | E71.0 |
| 8 | Other types of branched-chain amino acid metabolism disorders (isovaleriс acidemia, methylmalonic acidemia, propionic acidemia) | E71.1 |
| 9 | Fatty acid metabolism disorders | E71.3 |
| 10 | Homocystinuria | E72.1 |
| 11 | Glutaric aciduria | E72.3 |
| 12 | Galactosemia | E74.2 |
| 13 | Other sphingolipidoses: Fabry disease, Niemann-Pick disease | E75.2 |
| 14 | Acute intermittent (hepatic) porphyria | E80.2 |
| 15 | Copper metabolism disorders (Wilson’s disease) | E83.0 |
| 16 | Osteogenesis imperfecta | Q78.0 |
| 17 | Pulmonary (arterial) hypertension (idiopathic) (primary) | I27.0 |
a
International Statistical Classification of Diseases and Related Health Problems, 10th revision.