DiseaseID 5415
易栓症
disease
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
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Disease: 1Formula: 4Herb: 7Symptom: 12Target: 23Links: 47
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5415
- Core Entity Id
- 61910
- Source Entity Count
- 1
- Preferred Name
- Thrombophilia
- Name Cn
- 易栓症
- Name Pinyin
- Yi Shuan Zheng
- Name En
- Thrombophilia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of blood and blood-forming tissues
- Mesh Class Name
- Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of blood and blood-forming tissues
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Thrombophilia
Role
preferred
Name
Afibrinogenemia
Role
preferred
Name
Congenital Thrombotic Disease, Due To Protein C Deficiency
Role
preferred
Name
Deep Vein Thrombosis
Role
preferred
Name
Factor V Deficiency
Role
preferred
Name
Factor Vii Deficiency
Role
preferred
Name
Familial Dysfibrinogenemia
Role
preferred
Name
Protein S Deficiency
Role
preferred
Name
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Role
preferred
Name
Thrombophilia Due To Thrombin Defect
Role
preferred
Name
Thrombophilia Due To Thrombomodulin Defect
Role
preferred
Name
Venous Thromboembolism
Role
preferred
Name
Venous Thrombosis
Role
preferred
Name
Antithrombin III Deficiency
Role
preferred
Name
Congenital Hypofibrinogenemia
Role
preferred
Name
Deficiency of Factor V [Labile]
Role
preferred
Name
Deficiency of Factor Vii [Stable]
Role
preferred
Name
Deficiency of Factor X [Stuart-Prower]
Role
preferred
Name
Deficiency of Factor Xii [Hageman]
Role
preferred
Name
Dysfibrinogenemia, Congenital
Role
preferred
Name
Factor II deficiency
Role
preferred
Name
Familial Afibrinogenemia
Role
preferred
Name
Fibrinogen Deficiency
Role
preferred
Name
Hereditary Antithrombin Deficiency
Role
preferred
Name
Hereditary Factor V Deficiency
Role
preferred
Name
Hypodysfibrinogenemia, Congenital
Role
preferred
Name
Protein C Deficiency
Role
preferred
Name
Protein C Deficiency, Acquired
Role
preferred
Name
Reduced Factor Vii Activity
Role
preferred
Name
Reduced Protein S Activity
Role
preferred
Name
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Role
preferred
Name
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Role
preferred
Name
Afibrinogenemia, Congenital
Role
alias
Name
Blood Clot In A Deep Vein
Role
alias
Name
Blood Clot In Vein
Role
alias
Name
Blood Hyperviscosity
Role
alias
Name
Congenital Afibrinogenemia
Role
alias
Name
Decreased Antithrombin Iii
Role
alias
Name
Deep Venous Thrombosis
Role
alias
Name
F7 DEFICIENCY
Role
alias
Name
HYPOPROCONVERTINEMIA
Role
alias
Name
Hypercoagulability
Role
alias
Name
Hypofibrinogenemia, Congenital
Role
alias
Name
LABILE FACTOR DEFICIENCY
Role
alias
Name
Multiple Deep Venous Thrombosis
Role
alias
Name
OWREN PARAHEMOPHILIA
Role
alias
Name
PARAHEMOPHILIA
Role
alias
Name
PROC DEFICIENCY, AUTOSOMAL DOMINANT
Role
alias
Name
PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
Role
alias
Name
Reduced Antithrombin Iii Activity
Role
alias
Name
Reduced Coagulation Factor V Activity
Role
alias
Name
Reduced Factor V Activity
Role
alias
Name
Reduced Protein C Activity
Role
alias
Name
THPH1
Role
alias
Name
THPH12
Role
alias
Name
THPH3
Role
alias
Name
THROMBOPHILIA DUE TO FACTOR 2 DEFECT
Role
alias
Name
THROMBOSIS, PROTECTION AGAINST
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001976HP:0002625HP:0003225HP:0004855HP:0004936HP:0005543HP:0008169HP:0100724
Herb
HBDIS000078HBDIS001029HBDIS001030HBDIS003097HBDIS003499HBDIS005446HBDIS006771HBDIS006776HBDIS008792HBDIS008793HBDIS017734HBDIS017822HBDIS019174HBDIS019312HBDIS019313HBDIS020059HBDIS020060HBDIS020061HBDIS020062HBDIS020166HBDIS020872HBDIS020961HBDIS021366HBDIS021922HBDIS024666HBDIS024974HBDIS026411HBDIS026448
Me Sh
D000347D005166D005168D018455D019851D020151D020152D020246D054556
Omim
176860188050202400227400227500613118614486616004
Umls
C0001733C0015499C0015503C0042487C0149871C0242666C0272350C0272375C0398623C0398625C1861172C2584774C2674321C2674322C2930896C3160733C3280976
Icd10
D68.2D68.59I82.40I82.90
Sym Map
SMDE01124SMDE01303SMDE01424SMDE01546SMDE02050SMDE02504SMDE02629SMDE02672SMDE03030SMDE05625SMDE07496SMDE07747SMDE12488SMDE12490SMDE13870SMDE14232SMDE14233
Do Class
DOID:630DOID:7
Dis Ge Net
C0001733C0015499C0015503C0042487C0149871C0242666C0272350C0272375C0398623C0398625C1859970C1861172C2584774C2674321C2674322C2873785C2873786C2873787C2873788C2930896C3160733C3203356C3280976C3658294C4024722C4025284C4316812C4317320
Orphanet
1010417459888098881
Umls Sty
T033T046T047
Hpo Class
HP:0001871
Me Sh Class
C14C15C16
Etcm Disease
Antithrombin Iii DeficiencyDysfibrinogenemia, CongenitalFactor V DeficiencyFactor Vii Deficiency
Tcmbank Disease
1008511501186212144133091371416326174811772518381219552292523823254162610263672640128905292783013230707311303138831843421343884731675676817832824997419832
Itcmdb Generated
ITX-DISEASE-1E6A81529850ITX-DISEASE-4B4285FF6DF5ITX-DISEASE-4BB5AC178198ITX-DISEASE-56D4D8761A90ITX-DISEASE-5D23A7242BCCITX-DISEASE-6BC0F2843959ITX-DISEASE-6BE4A23BF21EITX-DISEASE-7C999ED107B1ITX-DISEASE-8B4B29ADBCE6ITX-DISEASE-98082130D7A5ITX-DISEASE-A82092152BC7ITX-DISEASE-D3FFDD2100ECITX-DISEASE-E291EA2731EB
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Antithrombin Iii Deficiency Details pageDisease Dysfibrinogenemia, Congenital Details pageDisease Factor V Deficiency Details pageDisease Factor Vii Deficiency Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of blood and blood-forming tissues
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of blood and blood-forming tissues
Umls Disease Type
Disease or SyndromeFindingPathologic Function
Basic Information
Disease Name
Antithrombin Iii Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Dysfibrinogenemia, Congenital
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases
Disease Name
Factor V Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Smell/Taste diseases
Disease Name
Factor Vii Deficiency
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Nephrological diseases;Smell/Taste diseases
Disease Definition
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.MSH2017_2016_08_12:An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.NCI2016_02D:A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.|MSH2017_2016_08_12:An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.|HPO2016_07_04:An abnormality of coagulation related to a decreased concentration of antithrombin-III. [HPO:probinson]NCI2016_02D:A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism.|MSH2017_2016_08_12:An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)|HPO2016_07_04:An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. [HPO:probinson]NCI2016_02D:A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism.|MSH2017_2016_08_12:An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523)NCI2016_02D:A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding.|NCI2016_02D:A blood coagulation disorder characterized by the complete absence of fibrinogen in the blood, resulting in bleeding.|MSH2017_2016_08_12:A deficiency or absence of FIBRINOGEN in the blood.|CSP2006:deficiency or absence of fibrinogen (coagulation factor I) in the blood.NCI2016_02D:A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding.|MSH2017_2016_08_12:A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)|HPO2016_07_04:Decreased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. [HPO:probinson]NCI2016_NICHD_1602D:Abnormally increased tendency of the blood to form clots.|NCI2016_02D:A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.|MSH2017_2016_08_12:A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.|HPO2016_07_04:An abnormality of coagulation associated with an increased risk of thrombosis. [HPO:probinson]NCI2016_NICHD_1602D:Formation of a blood clot within a deep vein.|NCI2016_NCI-GLOSS_1602D:The formation of a blood clot in a deep vein of the leg or lower pelvis. Symptoms may include pain, swelling, warmth, and redness in the affected area.|NCI2016_02D:A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity.(NICHD)|MEDLINEPLUS_20151021:<p>Deep vein thrombosis, or DVT, is a <a href='https://www.nlm.nih.gov/medlineplus/bloodclots.html'>blood clot</a> that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a <a href='https://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html'>pulmonary embolism</a>.</p> <p>Sitting still for a long time can make you more likely to get a DVT. Some medicines and disorders that increase your risk for blood clots can also lead to DVTs. Common symptoms are </p> <ul> <li> Warmth and tenderness over the vein </li> <li> Pain or swelling in the part of the body affected </li> <li> Skin redness </li> </ul> <p>Treatment includes medicines to ease pain and inflammation, break up clots and keep new clots from forming. Keeping the affected area raised and applying moist heat can also help. If you are taking a long car or plane trip, take a break, walk or stretch your legs and drink plenty of liquids.</p>|HPO2016_07_04:Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. [HPO:probinson]NCI2016_NICHD_1602D:Partial or complete occlusion of the lumen of a vein by a thrombus.|NCI2016_02D:The formation of a blood clot (thrombus) in the lumen of a vein.|MSH2017_2016_08_12:The formation or presence of a blood clot (THROMBUS) within a vein.|HPO2016_07_04:Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. [HPO:probinson]|CSP2006:presence of an aggregation of blood factors, primarily fibrin and platelets, (thrombus) in a vein.NCI2016_NICHD_1602D:The migration of a blood clot formed within a vein to a site distant from the formation.|NCI2016_02D:Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.|MSH2017_2016_08_12:Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream.
Me Sh Disease Class
Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesHemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or SyndromeFindingPathologic Function