| Illness |
ICD-10 code |
ORPHA code |
| Anemia due to glucose-6-phosphate dehydrogenase deficiency [G6PD] |
D55.0 |
362 |
| Beta-thalassemia major |
D56.1 |
231214 |
| Thalassemia intermediate |
D56.1 |
231222 |
| Hereditary spherocytosis |
D58.0 |
822 |
| Paroxysmal nocturnal hemoglobinuria |
D59.5 |
447 |
| Fanconi's anemia |
D61.0 |
84 |
| Blackfan-Diamond syndrome |
D61.0 |
124 |
| Congenital dyserythropoietic anemia |
D64.4 |
65 |
| Congenital factor VIII deficiency (Hemophilia A) |
D66 |
98878 |
| Congenital factor IX deficiency (Haemophilia B) |
D67 |
98879 |
| Von Willebrand's disease |
D68.0 |
903 |
| Congenital factor II deficiency |
D68.2 |
325 |
| Congenital factor V deficiency |
D68.2 |
326 |
| Congenital factor VII deficiency |
D68.2 |
327 |
| Congenital factor X deficiency |
D68.2 |
328 |
| Congenital deficiency of factor XII |
D68.2 |
330 |
| Congenital factor XIII deficiency |
D68.2 |
331 |
| Congenital fibrinogen deficiency |
D68.2 |
335 |
| Hereditary hypogammaglobulinemia - X-linked agammaglobulinemia (Bruton) |
D80.0 |
47 |
| Nonfamilial hypogammaglobulinemia - common variable agammaglobulinemia |
D80.1 |
1572 |
| Selective immunoglobulin A (IgA) deficiency |
D80.2 |
69129 |
| Selective immunoglobulin M (IgM) deficiency |
D80.4 |
331235 |
| Transient hypogammaglobulinemia in children |
D80.7 |
169139 |
| Wiskott-Aldrich syndrome |
D82.0 |
906 |
| Di George's syndrome |
D82.1 |
567 |
| Simple variable immunodeficiency with predominant B-cell count and function abnormalities |
D83.0 |
1572 |
| Simple variable immunodeficiency with predominant disorders in immunoregulatory T cells |
D83.1 |
1572 |
| Hypopituitarism |
E23.0 |
90695 |
| Glycogen accumulation disease - Pompe disease |
E74.0 |
365 |
| Niemann-Pick type B disease |
E75.2 |
77293 |
| Niemann-Pick disease type C |
E75.2 |
646 |
| Fabry's disease |
E75.2 |
32 |
| Gaucher disease |
E75.2 |
77259, 77260, 77261 |
| Congenital erythropoietic porphyria |
E80.0 |
79277 |
| Erythropoietic protoporphyria |
E80.0 |
79278 |
| Porphyria cutanea tarda |
E80.1 |
101330 |
| Congenital coproporphyria |
E80.2 |
79273 |
| Acute intermittent porphyria |
E80.2 |
79276 |
| Porphyria variegata |
E80.2 |
79473 |
| Wilson-Konovalov disease |
E83.0 |
905 |
| Disorders of iron metabolism (hemochromatosis) |
E83.1 |
139498, 79230, 225123, 139491 |
| Cystic fibrosis (cystic fibrosis) |
E84.0, E84.1, E84.8 |
586 |
| Hereditary familial amyloidosis with neuropathy |
E85.1 |
85447 |
| Muscular dystrophy (distal myopathies) |
G71.0 |
602, 329478, 399086 |
| Emery-Dreifuss type progressive muscular dystrophy |
G71.0 |
261 |
| Progressive muscular dystrophy type Becker |
G71.0 |
98895 |
| Progressive Duchenne muscular dystrophy |
G71.0 |
98896 |
| Progressive girdle-type dystrophies |
G71.0 |
102014, 102015 |
| Facio-scapular-humeral muscular dystrophy |
G71.0 |
269 |
| Pulmonary hypertension associated with systemic sclerosis |
I27.0 / M34.0 |
422 |
| Common arterial trunk |
Q20.0 |
3384 |
| Double the right vent outlet |
Q20.1 |
3426 |
| Discordant connection of the chambers with the arteries |
Q20.3 |
860 |
| Double chamber inlet |
Q20.4 |
1464 |
| Interventricular septal defect with aortic insufficiency |
Q21.0 |
99094 |
| Atrial ventricular septal defect |
Q21.2 |
1330 |
| Aorthopulmonary septal defect |
Q21.4 |
2037 |
| Eisenmenger syndrome |
Q21.8 |
97214 |
| Hypoplastic right heart syndrome |
Q22.6 |
439 |
| Congenital stenosis of the aortic valve |
Q23.0 |
3093 |
| Open ductus arteriosus |
Q25.0 |
706 |
| Aortic coarctation |
Q25.1 |
1457 |
| Pulmonary artery atresia |
Q25.5 |
1208 |
| Total abnormal infusion of the pulmonary veins |
Q26.2 |
99125 |
| Partial abnormal infusion of the pulmonary veins |
Q26.3 |
99124 |
| Epidermolysis bullosa |
Q81 |
79361 |
