74848003: Hemostatic function (observable entity)

SNOMED CT Concept\Observable entity\Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions\Hematologic function\Haemostatic function

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Haemostatic function	Is a	Hematologic function	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Amegakaryocytic thrombocytopenia	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Megakaryocytic thrombocytopenia	Interprets	True	Haemostatic function	Inferred relationship	Some	2
May-Hegglins anomali	Interprets	False	Haemostatic function	Inferred relationship	Some	3
Epsteins syndrom	Interprets	False	Haemostatic function	Inferred relationship	Some	4
Montreal platelet syndrome (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Mediterranean thrombocytopenia	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Post-splenectomy thrombocytosis	Interprets	True	Haemostatic function	Inferred relationship	Some	2
pseudo-von Willebrands sygdom	Interprets	False	Haemostatic function	Inferred relationship	Some	3
pancytopeni-dysmeli	Interprets	False	Haemostatic function	Inferred relationship	Some	5
Essential thrombocythemia (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Parvoviral aplastic crisis (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	7
Thrombocytosis	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Aplastic anaemia	Interprets	True	Haemostatic function	Inferred relationship	Some	7
Platelet dysfunction associated with uremia (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Aplastic anemia due to infection	Interprets	True	Haemostatic function	Inferred relationship	Some	8
Hereditary thrombocytopenic disorder (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Autoimmune neonatal thrombocytopenia	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Thrombocytopenia due to sequestration	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Neonatal thrombocytopenia	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.	Interprets	True	Haemostatic function	Inferred relationship	Some	2
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	Interprets	True	Haemostatic function	Inferred relationship	Some	9
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Acquired platelet disorder	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Chronic acquired pure red cell aplasia	Interprets	False	Haemostatic function	Inferred relationship	Some	6
Aplastic anemia caused by antineoplastic agent	Interprets	True	Haemostatic function	Inferred relationship	Some	7
A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11.	Interprets	True	Haemostatic function	Inferred relationship	Some	7
A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12.	Interprets	True	Haemostatic function	Inferred relationship	Some	6
A rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	Interprets	True	Haemostatic function	Inferred relationship	Some	3
A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE).	Interprets	True	Haemostatic function	Inferred relationship	Some	2
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	Interprets	True	Haemostatic function	Inferred relationship	Some	6
Thrombocytopenia due to COVID-19	Interprets	True	Haemostatic function	Inferred relationship	Some	4
Familial pigmented purpuric eruption	Interprets	True	Haemostatic function	Inferred relationship	Some	5
Fetal thrombocytopenia	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Fetal hemophilia	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Upshaw-Schulman syndrome (disorder)	Interprets	False	Haemostatic function	Inferred relationship	Some	1
Autoimmune thrombotic thrombocytopenic purpura (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	5
Acquired thrombotic thrombocytopenic purpura (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	5
Drug induced thrombotic thrombocytopenic purpura (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Deficiency of coagulation factor due to vitamin K malabsorption (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Deficiency of coagulation factor due to vitamin K malabsorption in obstructive biliary disease (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Factor X deficiency due to systemic amyloidosis	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Drug-induced fibrinolytic disorder	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Fibrinolytic disorder caused by tissue plasminogen activator	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Fibrinolytic disorder caused by urokinase	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Pancytopenia caused by anticonvulsant	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Pancytopenia caused by antithyroid drug (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Thrombosis with thrombocytopenia syndrome with the detection of antibodies against PF-4 (platelet factor-4).	Interprets	True	Haemostatic function	Inferred relationship	Some	2
X-linked thrombocytopenia with normal platelets (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Acquired prekallikrein deficiency (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported.	Interprets	True	Haemostatic function	Inferred relationship	Some	1
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.	Interprets	True	Haemostatic function	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.	Interprets	True	Haemostatic function	Inferred relationship	Some	3
A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.	Interprets	True	Haemostatic function	Inferred relationship	Some	1
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition.	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Antepartum hemorrhage with afibrinogenemia	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Hyperfibrinolysis	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Antepartum hemorrhage with coagulation defect (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Antepartum haemorrhage with hyperfibrinolysis	Interprets	True	Haemostatic function	Inferred relationship	Some	3
ante partum-blødning med koagulationsdefekt, barn født	Interprets	False	Haemostatic function	Inferred relationship	Some	2
ante partum-blødning med koagulationsdefekt, barn ikke født	Interprets	False	Haemostatic function	Inferred relationship	Some	1
Antepartum hemorrhage with hypofibrinogenemia	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Antepartum hemorrhage with disseminated intravascular coagulation (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Maternal perinatal purpura (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Fetal purpura (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.	Interprets	True	Haemostatic function	Inferred relationship	Some	2
A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia.	Interprets	True	Haemostatic function	Inferred relationship	Some	1
A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites), and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman's disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency, and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase, while marked polyclonal hypergammopathy is rare.	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Acquired antithrombin III deficiency	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Premature separation of placenta with coagulation defect	Interprets	True	Haemostatic function	Inferred relationship	Some	3
A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.	Interprets	True	Haemostatic function	Inferred relationship	Some	1
A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	Interprets	True	Haemostatic function	Inferred relationship	Some	2
A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.	Interprets	True	Haemostatic function	Inferred relationship	Some	2
Acquired protein S deficiency	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Acquired protein C deficiency (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Acquired heparin cofactor II deficiency (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Intrapartum hemorrhage with coagulation defect	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Parturient hemorrhage associated with hypofibrinogenemia	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Postpartum afibrinogenemia with hemorrhage	Interprets	True	Haemostatic function	Inferred relationship	Some	4
Pigmented purpuric dermatosis (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	5
Lichen aureus	Interprets	True	Haemostatic function	Inferred relationship	Some	6
Progressive pigmentary dermatosis of Schamberg	Interprets	True	Haemostatic function	Inferred relationship	Some	6
Upshaw-Schulman syndrome (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	2
A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Hematopoietic subsyndrome of acute radiation syndrome (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Afibrinogenemia following molar pregnancy (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	4
Afibrinogenemia following ectopic pregnancy (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	4
Defibrination syndrome following molar pregnancy	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Defibrination syndrome following ectopic pregnancy (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Postpartum hemolysis-elevated liver enzymes-low platelet count syndrome	Interprets	True	Haemostatic function	Inferred relationship	Some	3
Fanconi anemia of complementation group C	Interprets	True	Haemostatic function	Inferred relationship	Some	7
Mild hereditary factor VIII deficiency disease with high response inhibitor (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Mild hereditary factor VIII deficiency disease with low response inhibitor	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Severe hereditary factor VIII deficiency disease with high response inhibitor (disorder)	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Severe hereditary factor VIII deficiency disease with low response inhibitor	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Moderate hereditary factor VIII deficiency disease with high response inhibitor	Interprets	True	Haemostatic function	Inferred relationship	Some	1
Moderate hereditary factor VIII deficiency disease with low response inhibitor	Interprets	True	Haemostatic function	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
124302017	Hemostatic function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124306019	Blood coagulation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124307011	Blood clotting	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124310016	Hemostasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502831011	Haemostasis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502832016	Haemostatic function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1204583012	Hemostatic function (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2009011000005117	hæmostasefunktion	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)