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Severe hereditary thrombophilia due to congenital protein C deficiency

Disease definition

Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive thrombophilia due to PC deficiency
    • Autosomal recessive thrombophilia due to congenital protein C deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: D68.2
  • OMIM: 176860  612304
  • UMLS: C0398625  C2930896
  • MeSH: -
  • GARD: -
  • MedDRA: -
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