Hereditary coagulation factor deficiency

MedGen UID:: 473014
•Concept ID:: C0272316
•: Disease or Syndrome

Synonym:	Hereditary Coagulation Factor Deficiency
SNOMED CT:	Hereditary coagulation factor deficiency (16922007)

Definition

An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary coagulation factor deficiency

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Coagulation factor deficiency syndrome
        Hereditary coagulation factor deficiency
        Congenital factor V deficiency
        Congenital factor VII deficiency
        Congenital prothrombin deficiency
        Hereditary factor I deficiency disease
        Afibrinogenemia
        Congenital afibrinogenemia
        Dysfibrinogenemia
        Familial hypodysfibrinogenemia
        Hereditary Factor III Deficiency
        Hereditary factor IX deficiency disease
        Hemophilia B Brandenburg
        Hemophilia B leyden
        Hemophilia b(m)
        Mild hemophilia B
        Moderately severe hemophilia B
        Severe hemophilia B
        Symptomatic form of hemophilia B in female carriers
        Hereditary factor VIII deficiency disease
        Hemophilia A with vascular abnormality
        Mild hemophilia A
        Moderately severe hemophilia A
        Severe hemophilia A
        Symptomatic form of hemophilia A in female carriers
        Hereditary factor X deficiency disease
        Hereditary factor XI deficiency disease
        Hereditary factor XII deficiency disease
        Hereditary factor XIII deficiency disease

Professional guidelines

PubMed

A review of berotralstat for the treatment of hereditary angioedema.

Farkas H, Balla Z
Expert Rev Clin Immunol 2023 Feb;19(2):145-153. Epub 2022 Nov 29 doi: 10.1080/1744666X.2023.2150611. PMID: 36408587

Perioperative management of rare coagulation factor deficiency states in cardiac surgery.

Strauss ER, Mazzeffi MA, Williams B, Key NS, Tanaka KA
Br J Anaesth 2017 Sep 1;119(3):354-368. doi: 10.1093/bja/aex198. PMID: 28969316

Novelties in the Diagnosis and Treatment of Angioedema.

Cicardi M, Suffritti C, Perego F, Caccia S
J Investig Allergol Clin Immunol 2016;26(4):212-21; quiz two pages after page 221. doi: 10.18176/jiaci.0087. PMID: 27470642

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Hereditary coagulation factor deficiency

Definition

Term Hierarchy

Professional guidelines

PubMed

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