congenital afibrinogenemia

Thân thiện

A newborn baby is being tested for congenital afibrinogenemia.

Definition

1. Noun:
   • A rare, inherited blood clotting disorder present from birth. It is characterized by the complete absence of the protein fibrinogen in the blood plasma.

Usage

• This term is used exclusively in medical contexts to diagnose and describe a specific, severe hereditary coagulation defect.
• It functions as a countable noun (e.g., ).

Examples

• Noun:
  • The newborn was diagnosed with congenital afibrinogenemia after presenting with severe umbilical cord bleeding.
  • Management of congenital afibrinogenemia typically involves replacement therapy with fibrinogen concentrates.

Advanced Usage

• The condition is often discussed in contrast to hypofibrinogenemia (low fibrinogen) and dysfibrinogenemia (defective fibrinogen).
• In genetic counseling, the autosomal recessive inheritance pattern of congenital afibrinogenemia is explained to families.

Variants and Related Words

• Afibrinogenemia (noun): The general state of lacking fibrinogen; specifies the inherited form.
• Hypofibrinogenemia (noun): A condition of having a low level of fibrinogen in the blood.
• Dysfibrinogenemia (noun): A condition where fibrinogen is present but functions abnormally.

Synonyms

• Congenital fibrinogen deficiency (noun phrase): A more descriptive synonym.
• Factor I deficiency (noun phrase): The functional classification based on the clotting factor numbering system (Fibrinogen is Factor I).

Related Phrases

• Bleeding diathesis (noun phrase): A medical term for a predisposition to bleed, which is a primary consequence of congenital afibrinogenemia.
• Coagulation disorder (noun phrase): The broader category of diseases to which congenital afibrinogenemia belongs.

Học thuật

Noun

1. a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma