Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Secondary thrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia caused by drugs (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
thrombopénie due à une circulation sanguine extracorporelle |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Transient neonatal thrombocytopenia due to exchange transfusion |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Transient neonatal thrombocytopenia due to idiopathic maternal thrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Transient neonatal thrombocytopenia due to isoimmunisation |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Pancytopenia with pancreatitis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Amegakaryocytic thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Megakaryocytic thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
May-Hegglin anomaly |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
syndrome d'Epstein |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Montreal platelet syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Mediterranean thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Metabolic thrombocytopenic purpura |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Immune thrombocytopenic purpura |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Neonatal thrombocytopenia due to platelet alloimmunization (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Primary thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
purpura thrombopénique congénital |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Perinatal thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Pancytopenia-dysmelia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Autoimmune neonatal thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenic disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia due to massive blood transfusion |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia due to sequestration |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Amegakaryocytic thrombocytopenia with congenital malformation |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Megakaryocytic aplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Radiation thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Autoimmune thrombocytopenia in pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Upshaw-Schulman syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Thrombocytopenic purpura due to defective platelet production (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenic purpura due to platelet consumption (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Uremic thrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenic purpura associated with metabolic disorder (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia with acquired immunodeficiency syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Autoimmune thrombotic thrombocytopenic purpura (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Hereditary thrombocytopenic disorder (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Acquired thrombotic thrombocytopenic purpura (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Thrombocytopenia caused by alcohol (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopathy, asplenia and miosis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
MYH9 macrothrombocytopenia syndrome |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
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). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Severe fever with thrombocytopenia syndrome (SFTS) is a newly emerging infectious disease. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Thrombocytopaenia co-occurrent and due to alcoholism |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Pancytopenia due to antineoplastic chemotherapy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Pancytopenia due to antineoplastic chemotherapy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Hemolytic disease of newborn co-occurrent and due to ABO immunization (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Hemolytic disease of newborn co-occurrent and due to ABO immunization (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
Haemolytic uraemic syndrome with either a family history of haemolytic uraemic syndrome or a genetic mutation known to cause haemolytic uraemic syndrome, or both. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
10 |
Haemolytic uraemic syndrome with either a family history of haemolytic uraemic syndrome or a genetic mutation known to cause haemolytic uraemic syndrome, or both. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
11 |
Transient neonatal neutropenia due to congenital viral infection |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Transient neonatal neutropenia due to neonatal bacterial sepsis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
Stiffness of bilateral shoulder joints (finding) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of bilateral shoulder joints (finding) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Stiffness of bilateral hand joints (finding) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of bilateral hand joints (finding) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia, and mitochondrial myopathy. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia, and mitochondrial myopathy. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Neck pain co-occurrent with neck stiffness following whiplash injury to neck (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Neck pain co-occurrent with tenderness of neck following whiplash injury to neck (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Iron deficiency anemia due to blood loss (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Iron deficiency anemia due to blood loss (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Acquired iron deficiency anemia due to decreased absorption (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Acquired iron deficiency anemia due to decreased absorption (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Secondary autoimmune haemolytic anaemia co-occurrent and due to systemic lupus erythematosus |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
9 |
Secondary autoimmune haemolytic anaemia co-occurrent and due to systemic lupus erythematosus |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
10 |
Secondary autoimmune hemolytic anemia co-occurrent and due to chronic inflammatory disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
9 |
Secondary autoimmune hemolytic anemia co-occurrent and due to chronic inflammatory disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
10 |
Secondary autoimmune hemolytic anemia co-occurrent and due to lymphoproliferative disorder |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
9 |
Secondary autoimmune hemolytic anemia co-occurrent and due to lymphoproliferative disorder |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
10 |
Secondary autoimmune hemolytic anemia co-occurrent and due to rheumatic disorder (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
9 |
Secondary autoimmune hemolytic anemia co-occurrent and due to rheumatic disorder (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
10 |
Secondary autoimmune hemolytic anemia co-occurrent and due to ulcerative colitis (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
9 |
Secondary autoimmune hemolytic anemia co-occurrent and due to ulcerative colitis (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
10 |
Isolated thrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Refractory thrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
9 |
Low-level literacy (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Constitutional neutropenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Acquired neutropenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Constitutional eosinopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |