The designation Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) ‐related metabolic syndrome (CRMS), known in the UK and Europe as CF Screen Positive, Inconclusive Diagnosis (CFSPID) is used for infants with a positive NBS for whom follow‐up tests neither confirm, nor rule out, a CF diagnosis. The gene discussed is CFTR; the disease is CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis.