loading...| Preferred Name |
Hemophilia B |
|
| Synonyms |
Bs, Hemophilia |
|
| Definitions |
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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D002836 |
|
| altLabel |
Bs, Hemophilia Hemophilia Bs (M) F9 Deficiency Haemophilia B Haemophilia Bs F9 Deficiencies Disease, Christmas Factor IX Deficiency Plasma Thromboplastin Component Deficiency Deficiencies, F9 Deficiency, Factor IX Deficiency, F9 Christmas Disease Hemophilia B Leyden Hemophilia Bs Hemophilia B(M) Factor IX Deficiencies Deficiencies, Factor IX |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0008533 |
|
| DC |
1 |
|
| 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) |
|
| DX |
19990101 |
|
| FX |
D006467 |
|
| HN |
1999(1966) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1999; see CHRISTMAS DISEASE 1966-1998; for HEMOPHILIA B see CHRISTMAS DISEASE 1974-1998; for Hemophilia B Leyden see FACTOR IX 1990-2012 |
|
| MDA |
19990101 |
|
| MMR |
20160628 |
|
| MN |
C15.378.463.510 C16.320.322.235 C15.378.100.100.510 C16.320.099.510 C15.378.100.141.510 |
|
| notation |
D002836 |
|
| prefLabel |
Hemophilia B |
|
| TERMUI |
T008257 T008258 T811461 T811462 T473392 T824071 T811460 T008255 T008256 |
|
| TH |
OMIM (2013) NLM (1999) NLM (1966) NLM (1992) UNK (19XX) NLM (2003) NLM (2013) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D020147 |