CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis
Findings
No curated finding names CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100627), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
5 names
Resolves to: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis
- Also called
- CF screen positive, inconclusive diagnosisCFSPIDCFTR-related metabolic syndromeCRMSCRMS/CFSPID