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

AttributesValues
rdf:type
rdfs:label
  • Hemophilia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Hemophilia
UMLS_CUI
  • C0684275
Contributing_Source
  • NICHD
ALT_DEFINITION
  • Group of hereditary disorders in which affected individuals fail to make enough of certain proteins needed to form blood clots.NCI-GLOSS
Legacy_Concept_Name
  • Hemophilia
FULL_SYN
  • hemophiliaPTNCI-GLOSSCDR0000044132
  • HemophiliaPTNICHD
  • HemophiliaPTNCI
DEFINITION
  • A deficiency or abnormality of a blood coagulation factor characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage, Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (factor VIII deficiency) hemophilia B or Christmas disease (factor IX deficiency), and hemophilia C (factor XI deficiency). In individuals without hereditary hemophilia A, factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in a condition known as 'acquired hemophilia.' Approximately 10 % of patients with acquired hemophilia have an underlying malignancy.NCI
code
  • C3093
is rdfs:subClassOf of
is someValuesFrom of
is Has_NICHD_Parent of
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