has material basis in germline mutation in CFTR metabolic disease inborn errors of metabolism CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis https://github.com/monarch-initiative/mondo/issues/8939 A condition identified in infants with hypertrypsinogenemia on newborn screening who have an inconclusive diagnosis, defined as having a sweat chloride value less than 60 mmol/L and two CFTR variants, at least one of which has unclear phenotypic consequences, and who thus do not meet diagnostic criteria for cystic fibrosis (CF). CRMS is the designation used in the United States; CFSPID (CF screen positive, inconclusive diagnosis) is the international equivalent. A proportion of these infants may later develop CFTR-related symptoms. CRMS MONDO:0100627 GARD:0027376 CF screen positive, inconclusive diagnosis CFSPID CFTR-related metabolic syndrome CRMS/CFSPID