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Hemophilia B (CUI C0008533) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0008533

NCI Thesaurus Code: C26721  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.

GARD Definition: Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor trauma or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene. - this information is from GARD/ORDR/NCATS.

NICHD Definition: An X-linked recessive deficiency of coagulation factor IX characterized by a tendency to bleed. Hemophilia B occurs in approximately 1 in 20,000 live male births.

CSP Definition: deficiency of blood coagulation factor IX inherited as an X-linked disorder; clinical features resemble those in hemophilia A, but patients present with fewer symptoms.

MSH 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)

Synonyms & Abbreviations: (see Synonym Details)
ANTIHEMOPHILIC FACTOR B DEFICIENCY
AUTOPROTHROMBIN II DEFICIENCY
Bs, Hemophilia
Christmas disease (Factor IX)
Christmas Disease
CHRISTMAS DIS
Cong factor IX disorder
Congenital factor IX deficiency
Congenital factor IX disorder
DEFIC FACTOR IX
Deficiencies, F9
Deficiencies, Factor IX
Deficiency, F9
Deficiency, Factor IX
Deficiency, functional factor IX
Deficiency, plasma thromboplastin component
Deficiency, PTC
Disease, Christmas
F9 Deficiencies
F9 Deficiency
Factor IX Deficiencies
FACTOR IX DEFICIENCY
FACTOR IX DEFIC
FACTOR VIIII DEFICIENCY
Haemophilia B (Factor IX)
Haemophilia Bs
Haemophilia B
HEM B
HEMB
Hemophilia B (Factor IX)
Hemophilia B [Disease/Finding]
Hemophilia B Leyden
Hemophilia B(M)
Hemophilia Bs (M)
Hemophilia Bs
hemophilia B
Hereditary factor IX deficiency disease (disorder)
Hereditary Factor IX Deficiency Disease
Hereditary factor IX deficiency
Plasma thromboplastin component [PTC] deficiency
PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY
PTC deficiency disease
PTC DEFICIENCY
Sex-linked factor IX deficiency disease

External Source Codes: 
NCI Thesaurus Code C26721 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID D301. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0438-3499 CSP
DISEASE_IDENTIFIER_ID 3448 GARD
DISEASE_IDENTIFIER_ID 3449 GARD
DISEASE_IDENTIFIER_ID 3450 GARD
DX 19990101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D006467 MSH
GENELOCUS ,X,q,2,7,.,1,-,q,2,7,.,2, OMIM
GENESYMBOL F9 OMIM
GENESYMBOL HEMB OMIM
GENESYMBOL THPH8 OMIM
HAS_GARD_PAGE true GARD
HN 1999(1966) MSH
IAN DEFAULT ICD10
ICE Christmas disease; Deficiency: {factor IX (functional); plasma thromboplastin component [PTC]}; Hemophilia B ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Christmas disease ICD10
INCLUSION_TERM Deficiency: factor IX (with functional defect) ICD10
INCLUSION_TERM Deficiency: plasma thromboplastin component [PTC] ICD10
INCLUSION_TERM Haemophilia B ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-02-01T00:00:00 GARD
MDA 19990101 MSH
MESH_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) NDFRT
MESH_DUI D002836 NDFRT
MESH_NAME Hemophilia B NDFRT
MESH_UI M0004363 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160628 MSH
MN C15.378.100.100.510 MSH
MN C15.378.100.141.510 MSH
MN C15.378.463.510 MSH
MN C16.320.099.510 MSH
MN C16.320.322.235 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Hemophilia B NCI
NUI N0000000781 NDFRT
ORDER_NO 03450 ICD10CM
PM 1999; see CHRISTMAS DISEASE 1966-1998; for HEMOPHILIA B see CHRISTMAS DISEASE 1974-1998; for Hemophilia B Leyden see FACTOR IX 1990-2012 MSH
PRIMARY_PATH 10016077$10009735$10005330$10010331$Factor IX deficiency$Coagulation disorders congenital$Blood and lymphatic system disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/8732/hemophilia-b/resources/1 GARD
RXAUI 3133221 RXNORM
RXAUI 3144898 RXNORM
RXAUI 3159433 RXNORM
RXAUI 3170777 RXNORM
RXAUI 3171854 RXNORM
RXAUI 3171855 RXNORM
RXAUI 5039339 RXNORM
RXAUI 5039439 RXNORM
RXAUI 5039440 RXNORM
RXAUI 5039818 RXNORM
RXCUI 1023041 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 41788008 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D67 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D67 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D67 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D67 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~D301. SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T008255 MSH
TERMUI T008256 MSH
TERMUI T008257 MSH
TERMUI T008258 MSH
TERMUI T473392 MSH
TERMUI T811460 MSH
TERMUI T811461 MSH
TERMUI T811462 MSH
TERMUI T824071 MSH
TH NLM (1966) MSH
TH NLM (1992) MSH
TH NLM (1999) MSH
TH NLM (2003) MSH
TH NLM (2013) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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