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Table 1 29 rare conditions selected for care pathway development across 18 ERNs

From: Designing rare disease care pathways in the Republic of Ireland: a co-operative model

ERN

Orphanet Disease

ORPHAcode

Endo-ERN

Turner syndrome

99413

Endo-ERN

Primary Adrenal Insufficiency

101958

ERKNet

Glomerular disease

183586

ERN BOND

Osteogenesis Imperfecta

666

ERN BOND

Hypophosphataemic Rickets

437

ERN EpiCARE

Tuberous Sclerosis

805

EuroBloodNet

Sickle Cell Anaemia

232

EuroBloodNet

Von Willebrand disease

903

ERN EURO-NMD

Duchenne Muscular Dystrophy

98896

ERN EURO-NMD

Amyotrophic Lateral Sclerosis

803

ERN EYE

Retinitis Pigmentosa

791

ERN EYE

Usher Syndrome

886

ERN GENTURIS

Neurofibromatosis type 1

636

ERN GUARD-HEART

Long QT syndrome

768

ERN ITHACA

22q11.2 deletion syndrome

567

ERN ITHACA

Angelman syndrome

72

ERN LUNG

Sarcoidosis

797

ERN RARE-LIVER

Wilson Disease

905

ERN ReCONNET

Ehlers-Danlos Syndrome

98249

ERN RITA

Vasculitis

52759

ERN RITA

Juvenile Idiopathic Arthritis

92

ERN-RND

Hereditary Spastic Paraplegia

685

ERN-RND

Early-onset generalized limb-onset dystonia

256

ERN Skin

Inherited Epidermolysis Bullosa

79361

MetabERN

Phenylketonuria

716

MetabERN

Fabry Disease

324

VASCERN

Hereditary Haemorrhagic Telangiectasia

774

VASCERN

Marfan syndrome

558

VASCERN

Vascular Ehlers-Danlos Syndrome

286