Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). [ Orphanet:335 ]
Synonyms: congenital fibrinogen deficiency
Term information
- Orphanet:335 (MONDO:equivalentTo)
- GARD:2320 (Orphanet:335)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital
https://search.clinicalgenome.org/kb/conditions/MONDO:0018060