Link to this page
Biological and Environmental Research Ontology
| Preferred Name | Hemophilia | |
| Synonyms |
|
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_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
|
|
| Contributing_Source |
Cellosaurus GDC NICHD
|
|
| 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.
|
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C132009 http://purl.obolibrary.org/obo/NCIT_C165258 |
|
| Is_Value_For_GDC_Property | ||
| label |
Hemophilia
|
|
| Legacy Concept Name |
Hemophilia
|
|
| Maps_To |
Hemophiliac
|
|
| Preferred_Name |
Hemophilia
|
|
| prefixIRI |
NCIT:C3093
|
|
| prefLabel |
Hemophilia
|
|
| Semantic_Type |
Disease or Syndrome
|
|
| UMLS_CUI |
C0684275
|
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |