hereditary combined deficiency of vitamin K-dependent clotting factors

Term ID

DOID:0112172

Synonyms

• hereditary combined deficiency of factors II, VII, IX and X
• VKCFD

Definition

A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. https://pubmed.ncbi.nlm.nih.gov/20630065/

References

• ORDO:98434
• SNOMEDCT_US_2023_03_01:724356003
• UMLS_CUI:C4510617

Ontology

Human Disease   ( DOID:0112172 )