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von Willebrand Disease (CUI C0042974) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0042974

NCI Thesaurus Code: C68677  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.

GARD Definition: Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this condition often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or even in the absence of injury. Milder forms of Von Willebrand disease do not involve spontaneous bleeding, and the condition may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Symptoms may change over time. Increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. This condition is caused by mutations in the VWF gene and can have different inheritance patterns. - this information is from GARD/ORDR/NCATS.

NICHD Definition: Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include mucocutaneous bleeding.

SNOMEDCT_US Definition: Includes true von Willebrand disease with mutation at the VWF locus, as well as mimicking disorders with other mutations (pseudo VWD) and acquired von Willebrand syndrome

CSP Definition: hemophilioid disorder due to deficiency of Von Willebrand factor and thus of Factor VIII complex.

MSH Definition: Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.

Synonyms & Abbreviations: (see Synonym Details)
Angiohaemophilia
Angiohemophilia, A
Angiohemophilia, B
Angiohemophilias
ANGIOHEMOPHILIA
Constitutional thrombopathy
Disorder, Von Willebrand
Factor VIII deficiency with vascular defect
Factor VIII Rag deficiency
HEMOPHILIA, VASCULAR
Pseudohaemophilia type B
Pseudohaemophilia
Pseudohemophilia type B
Pseudohemophilia, Vascular
Pseudohemophilias, Vascular
PSEUDOHEMOPHILIA
Vascular haemophilia
Vascular Hemophilias
vascular hemophilia
Vascular Pseudohemophilias
Vascular pseudohemophilia
von Willebrand Diseases [Disease/Finding]
von Willebrand Diseases
VON WILLEBRAND DISEASE
von Willebrand disorder (disorder)
Von Willebrand Disorder
VON WILLEBRAND DIS
Von Willebrand factor, deficiency
von Willebrand's Diseases
VON WILLEBRAND'S DISEASE
Von Willebrand's factor deficiency
von Willebrand's-Jurgens' disease
von Willebrand-Jurgens disease
VON WILLEBRANDS DISEASE
VON WILLEBRANDS DIS
vWD - von Willebrand's disease
VWD
WILLEBRAND-JUERGENS DISEASE

External Source Codes: 
NCI Thesaurus Code C68677 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN note specific types of Von Willebrand Disease are available MSH
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
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID D304. 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 0438-9190 CSP
DISEASE_IDENTIFIER_ID 6257 GARD
DISEASE_IDENTIFIER_ID 6258 GARD
DX 19680101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXCLUDES1 capillary fragility (hereditary) (D69.8) ICD10CM
EXCLUDES1 factor VIII deficiency NOS (D66) ICD10CM
EXCLUDES1 factor VIII deficiency with functional defect (D66) ICD10CM
FR 7 MSH
HAS_GARD_PAGE true GARD
HM D014842 MSH
HN 2010(1963) MSH
IAN DEFAULT ICD10
ICE Angiohemophilia (A) (B); Constitutional thrombopathy; Factor VIII deficiency with vascular defect; Pseudohemophilia type B; Vascular hemophilia; von Willebrand's (-Jurgens') disease ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Angiohaemophilia ICD10
INCLUSION_TERM Factor VIII deficiency with vascular defect ICD10
INCLUSION_TERM Vascular haemophilia ICD10
IS_ACTIVE true GARD
IS_RARE false GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-02-01T00:00:00 GARD
MDA 19990101 MSH
MDA 20100825 MSH
MESH_DEFINITION Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion. NDFRT
MESH_DUI D014842 NDFRT
MESH_NAME von Willebrand Diseases NDFRT
MESH_UI M0022853 NDFRT
MMR 20130708 MSH
MN C15.378.100.100.900 MSH
MN C15.378.100.141.900 MSH
MN C15.378.140.900 MSH
MN C15.378.463.920 MSH
MN C16.320.099.920 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term von Willebrand Disease NCI
NUI N0000003143 NDFRT
ORDER_NO 03452 ICD10CM
PM 2010; see VON WILLEBRAND DISEASE 1999-2009; see VON WILLEBRAND'S DISEASE 1968-1998, see HEMORRHAGIC DIATHESIS 1967, see THROMBOCYTOPATHY 1963-1966 MSH
PRIMARY_PATH 10047715$10009735$10005330$10010331$Von Willebrand's disease$Coagulation disorders congenital$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/7867/von-willebrand-disease/resources/1 GARD
RN 0 MSH
RXAUI 3109171 RXNORM
RXAUI 3171858 RXNORM
RXAUI 3263274 RXNORM
RXAUI 3288978 RXNORM
RXAUI 3288987 RXNORM
RXAUI 3288988 RXNORM
RXAUI 3288989 RXNORM
RXAUI 5932430 RXNORM
RXAUI 5932443 RXNORM
RXAUI 5932444 RXNORM
RXCUI 1022514 RXNORM
SC 3 MSH
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 128105004 NDFRT
SOS Excludes: factor VIII deficiency: {NOS (286.0); with functional defect (286.0)}; hereditary capillary fragility (287.8) ICD9CM
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D68.0 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~D68.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D68.0 | 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~D68.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~D304. 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 T043386 MSH
TERMUI T043387 MSH
TERMUI T043388 MSH
TERMUI T043389 MSH
TERMUI T727636 MSH
TERMUI T746761 MSH
TERMUI T746762 MSH
TERMUI T842673 MSH
TERMUI T842674 MSH
TERMUI T842675 MSH
TH GHR (2014) MSH
TH NLM (1964) MSH
TH NLM (1990) MSH
TH NLM (2010) 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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