From: Barriers and facilitators to the implementation of guidelines in rare diseases: a systematic review
ICD-11 disease categories | Orphanet prevalence | No. of studies |
---|---|---|
03: Diseases of the blood or blood-forming organs | Â | 10 (22.7%) |
Atypical Haemolytic Uraemic Syndrome | 1–9/100,000 | 1 |
Sickle Cell Disease | 1–5/10,000 | 9 |
04: Diseases of the immune system | Â | 11 (25.0%) |
Hereditary Angioedema | 1–9/100,000 | 6 |
Primary Immunodeficiency | 1–9/100,000 | 5 |
05: Endocrine, nutritional or metabolic disease | Â | 2 (4.5%) |
Urea Cycle Disorders (group of disorders) | – | 1 |
Gaucher’s disease | 1–9/100,000 | 1 |
08: Diseases of the nervous system | Â | 6 (13.6%) |
Duchenne Muscular Dystrophy | 1–9/100,000 | 5 |
Spinal Muscular Atrophy (group) | – | 1 |
09: Diseases of the visual system | Â | 2 (4.5%) |
Rare Non-Infectious Uveitis (group) | – | 2 |
12: Diseases of the respiratory system | Â | 10 (22.7%) |
Cystic Fibrosis | 1–5/10,000 | 4 |
Idiopathic Bronchiectasis | – | 1 |
Idiopathic Pulmonary Fibrosis | 1–5/10,000 | 5 |
13: Diseases of the digestive system | Â | 1 (2.3%) |
Primary Biliary Cholangitis | 1–5/10,000 | 1 |
15: Diseases of the musculoskeletal system or connective tissue | Â | 1 (2.3%) |
Rare Connective Tissues Disease (group) | – | 1 |
Not applicable | Â | 1 (2.3%) |
Non-specific | NA | 1 |