DiseaseID 4803

血管性血友病

disease

SNOMEDCT_US_2016_09_01: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|NCI2016_02D:Hereditary or

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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields

Scalar fields from the final disease record.

Disease Id
4803
Core Entity Id
61210
Source Entity Count
1
Preferred Name
Von Willebrand Disease
Name Cn
血管性血友病
Name Pinyin
Xue Guan Xing Xue You Bing
Name En
Von Willebrand Disease
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Do Class
disease of anatomical entity; genetic disease
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Hpo Class Name
Do Class Name
genetic disease; disease of anatomical entity
Disease Definition
SNOMEDCT_US_2016_09_01: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|NCI2016_02D: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.|MSH2017_2016_08_12: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.|CSP2006:hemophilioid disorder due to deficiency of Von Willebrand factor and thus of Factor VIII complex.
Version
v1,v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Von Willebrand Disease
Role
preferred
Name
Bleeding Disorder Due To P2RY12 Defect
Role
preferred
Name
Glycoprotein IA Deficiency
Role
preferred
Name
Glycoprotein VI deficiency
Role
preferred
Name
Hereditary Vascular Fragility
Role
preferred
Name
Other Specified Hemorrhagic Conditions
Role
preferred
Name
Stormorken-Sjaastad-Langslet Syndrome
Role
preferred
Name
Von Willebrand Disease, Platelet Type
Role
preferred
Name
Von Willebrand Disease, Recessive Form
Role
preferred
Name
Bleeding Disorder, Platelet-Type, 11
Role
alias
Name
Bleeding Disorder, Platelet-Type, 8
Role
alias
Name
Bleeding Disorder, Platelet-Type, 9
Role
alias
Name
Other Specified Haemorrhagic Conditions
Role
alias
Name
Platelet-Type Bleeding Disorder 11
Role
alias
Name
Platelet-Type Bleeding Disorder 3
Role
alias
Name
Platelet-Type Bleeding Disorder 8
Role
alias
Name
Platelet-Type Bleeding Disorder 9
Role
alias
Name
Pseudo-Von Willebrand Disease
Role
alias
Name
Von Willebrand Disease, Platelet-Type
Role
alias
Name
Von Willebrand Diseases
Role
alias
Name
Von Willebrand'S Disease
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS002243HBDIS003132HBDIS007865HBDIS013168HBDIS016466HBDIS016939HBDIS021266HBDIS021267
Me Sh
D014842
Omim
177820609821614200614201
Umls
C0042974C1861451
Icd10
D68.0D69.8
Sym Map
SMDE01625SMDE06481SMDE14326
Do Class
DOID:630DOID:7
Dis Ge Net
C0029804C0042974C0340804C1280798C1848525C1853278C3280114C3280120
Orphanet
3204
Umls Sty
T046T047
Me Sh Class
C14C15C16
Tcmbank Disease
1142122684247172511262232878360169806

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or SyndromePathologic Function
Disease Definition
SNOMEDCT_US_2016_09_01: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|NCI2016_02D: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.|MSH2017_2016_08_12: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.|CSP2006:hemophilioid disorder due to deficiency of Von Willebrand factor and thus of Factor VIII complex.Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or SyndromePathologic Function