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Orphanet website Ireland entry point

Orphanet Ireland
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National Clincal Care Pathways for Rare Diseases

 

 

The following clinical care pathways for Rare Diseases have been developed in Ireland and published in peer-reviewed journals, or are international pathways that have been validated for Ireland by our National Coordination team. Pathways marked with a * have been developed with the collaboration of Irish Rare Disease Experts.

 

The Orphanet directory also contains information about more than 270 validated Clinical Practice Guidelines for rare diseases - these can be accessed from the bottom of the disease summary page for the condition.  More information about Orphanet clinical practice guidelines can be found here.

 

 

General

 

Diagnostic pathway for developmental delay *


Informing families of their child's disability - National Best Practice Guidelines *

 

 

Rare syndromes

 

Alstrom syndrome

 

Bardet Biedl syndrome

 

Hereditary Haemorrhagic Telangectasia (HHT)

 

Malignant hyperthermia - clinical management * - genetic testing *

 

Silver Russell syndrome *

 

Wolfram (DIDMOAD)

 

22q11 syndrome

 

 

Rare inherited metabolic disease

 

Galactosemia *

 

Homocystinuria *

 

Emergency protocol for Methylmalonic aciduria

 

Emergency protocol for Urea cycle defects (citrullinema and ASD)

 

Emergency protocol for Maple Syrup Unine Disease (MSUD)





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Legal noticeContact us — Last updated on: 17-06-07