| Acronym | Meaning |
| ALF | Anonymised linkage field |
| AWMGS | All-Wales Medical Genomics Service |
| CAG | Confidentiality Advisory Group |
| CAVUHB | Cardiff and Vale University Health Board |
| CF | Cystic Fibrosis |
| CFTR/CFTR | Cystic fibrosis transconductance regulator; non-italics represents protein; italics represents gene |
| DHCW | Digital Health and Care Wales |
| HGVS | Human Genome Variation Society |
| HWIS | Health Wales Informatics Service (now Digital Health and Care Wales) |
| IRT | Immunoreactive trypsin |
| LIMS | Laboratory information management system |
| NBS | Newborn screening |
| NER | Named entity recognition |
| NHS | National Health Service |
| NLP | Natural language processing |
| PII | Personal identifiable information |
| POS | Part of speech |
| REC | Research Ethics Committee |
| SAIL | Secure Anonymised Information Linkage |
| SQL | Structured Query Language |