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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) |
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)
URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0042974