loading...| Preferred Name |
Hemophilia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3093 |
| ALT_DEFINITION |
A coagulation disorder characterized by the partial or complete absence of factor VIII or IX activity in the blood. 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 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
NICHD GDC Cellosaurus |
| DEFINITION |
A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy. |
| FULL_SYN |
Hemophiliac hemophilia Hemophilia |
| Is_Value_For_GDC_Property | |
| label |
Hemophilia |
| Legacy Concept Name |
Hemophilia |
| Maps_To |
Hemophiliac |
| Preferred_Name |
Hemophilia |
| prefixIRI |
Thesaurus:C3093 |
| prefLabel |
Hemophilia |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0684275 |
| subClassOf |