factor XI deficiency

Term ID

DOID:2229

Synonyms

• Congenital factor XI deficiency
• hemophilia C
• Hereditary factor XI deficiency disease
• plasma thromboplastin antecedent deficiency
• Rosenthal's disease

(all 5)

Definition

A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. (2)

References

• GARD:9670
• ICD10CM:D68.1
• ICD9CM:286.2
• MESH:D005173
• MIM:612416
• NCI:C84705
• SNOMEDCT_US_2023_03_01:49762007
• UMLS_CUI:C0015523

(all 8)

Ontology

Human Disease   ( DOID:2229 )