Cystic fibrosis
Cystic fibrosis
Definition
Diagnosis of CF requires **one clinical indicator** (positive newborn screen, symptoms consistent with CF, or family history) **plus one functional/genetic indicator**: 1. Sweat chloride concentration ≥60 mmol/L, or 2. Identification of two CF-causing CFTR pathogenic variants, or 3. Abnormal nasal potential difference measurement See also CFTR-related disorders (MONDO:7770004), which involve CFTR dysfunction limited to a single organ system and do not meet CF diagnostic criteria.
Also known as CF, cystic fibrosis, cystic fibrosis lung disease, modifier of, mucoviscidosis, pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis — per MONDO
Also identified as
- DOID 1485 per MONDO
- ICD10CM E84 per MONDO
- ICD9 277.0 per MONDO
- MESH D003550 per MONDO
- NCIT C2975 per MONDO
- OMIM 219700 per MONDO
- Orphanet 586 per MONDO
- SCTID 190905008 per MONDO
- UMLS C0010674 per MONDO
Drugs indicated
| Drug | Relation | Source |
|---|---|---|
| Acetylcysteine | may treat | MEDRT · Public domain (U.S. Government work) |
| Amiloride | may treat | MEDRT · Public domain (U.S. Government work) |
| Dornase Alfa | may treat | MEDRT · Public domain (U.S. Government work) |