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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

Hereditary angioedema: an update on causes, manifestations and treatment.

Longhurst HJ, Bork K
Br J Hosp Med (Lond) 2019 Jul 2;80(7):391-398. doi: 10.12968/hmed.2019.80.7.391. PMID: 31283393

Current and emerging biologics for the treatment of hereditary angioedema.

Perego F, Wu MA, Valerieva A, Caccia S, Suffritti C, Zanichelli A, Bergamaschini L, Cicardi M
Expert Opin Biol Ther 2019 Jun;19(6):517-526. Epub 2019 Mar 26 doi: 10.1080/14712598.2019.1595581. PMID: 30912460

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

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