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Table 3 Kallman syndrome example

From: The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases

National RD coding

National (ISS) proposal for RD attribution to ERN's

Data from EUROPEAN file (specificcriteria_en.xls)

Exemption code

RD NAME

Group

ERN 1st national candidate

National candidate

National

Proposal

Identified ERN

Main thematic group

Sub-thematic areas

Rare or complex disease(s), condition(s) or highly specialised intervention(s)

RC0020

Kallmann, sindrome di

Malattie delle ghiandole endocrine

ENDO

  

478

ENDO

Sexual development and maturation

 

Kallmann syndrome

  1. RD rare disease, ISS = Istituto Superiore di Sanita (Italian National Institute of Health), ERN European reference network
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172