| EC | European Commission |
| ERN | European Reference Network |
| ERN-RITA | European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases |
| IPOPI | International Patient Organization for Primary Immunodeficiencies |
| ISNS | International Society of Neonatal Screening |
| MetabERN | European Reference Network for Hereditary Metabolic Disorders |
| MS/MS | tandem mass spectrometry |
| NBS | newborn/neonatal screening |
| NBS-EAC | NBS expert advisory committee |
| SGPP | Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases |