About: Hemophilia B     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Hemophilia B
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Hemophilia B
UMLS_CUI
  • C0008533
Contributing_Source
  • NICHD
ALT_DEFINITION
  • A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)MSH2003_2003_05_12
Legacy_Concept_Name
  • Hemophilia_B
FULL_SYN
  • Factor IX DeficiencyPTNICHD
  • Hemophilia BPTNCI
  • Factor IX DeficiencySYNCI
  • Hereditary Factor IX Deficiency DiseaseSYNICHD
DEFINITION
  • An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.NCI
code
  • C26721
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