loading...| Preferred Name |
Hemophilia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3093 |
| ALT_DEFINITION |
Group of hereditary disorders in which affected individuals fail to make enough of certain proteins needed to form blood clots. |
| code |
C3093 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| 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. |
| Has_NICHD_Parent | |
| label |
Hemophilia |
| Legacy_Concept_Name |
Hemophilia |
| NICHD_Hierarchy_Term |
Hemophilia |
| Preferred_Name |
Hemophilia |
| prefixIRI |
C3093 |
| prefLabel |
Hemophilia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0684275 |
| subClassOf |