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congenital fibrinogen deficiency

^ http://purl.obolibrary.org/obo/MONDO_0018060

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 ]

Term info

database cross reference
  • GARD:0002320 (MONDO:equivalentTo)
  • Orphanet:335 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

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).

exactMatch

http://purl.obolibrary.org/obo/Orphanet_335

has exact synonym

congenital fibrinogen deficiency

has related synonym

fibrinogen deficiency, congenital

id

MONDO:0018060

seeAlso

https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital

Term relations