Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Acquired hemolytic anemia co-occurrent with human immunodeficiency virus infection (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
A rare X-linked syndromic intellectual disability characterized by profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Megaloblastic anemia due to vitamin B12 deficiency secondary to intestinal disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Megaloblastic anemia due to vitamin B12 deficiency secondary to intestinal disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
Vitamin B12 deficiency anaemia caused by drug |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Vitamin B12 deficiency anaemia caused by drug |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
Acquired iron deficiency anemia due to increased iron requirement (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Acquired iron deficiency anemia due to increased iron requirement (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
8 |
Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
9 |
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
6 |
A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
8 |
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
6 |
Pseudothrombocytopenia (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Anemia, pre-end stage renal disease on erythropoietin protocol |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Anemia, pre-end stage renal disease on erythropoietin protocol |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Thalassemia in mother complicating pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thalassemia in mother complicating pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Anaemia co-occurrent and due to chronic kidney disease stage 3 |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Anaemia co-occurrent and due to chronic kidney disease stage 3 |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Anemia in mother complicating childbirth |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Anemia in mother complicating childbirth |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Sickle cell anaemia in mother complicating childbirth |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Sickle cell anaemia in mother complicating childbirth |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Anemia following acute postoperative blood loss (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Anemia following acute postoperative blood loss (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Thalassemia in mother complicating childbirth |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thalassemia in mother complicating childbirth |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Iron deficiency anemia in mother complicating childbirth |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Iron deficiency anemia in mother complicating childbirth |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Megaloblastic anemia due to folate deficiency due to increased requirement (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Megaloblastic anemia due to folate deficiency in pregnancy and lactation (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Megaloblastic anemia due to folate deficiency in prematurity (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Acquired thiamine deficiency anemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Acquired thiamine deficiency anemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Megaloblastic anemia due to folate deficiency due to increased requirement (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Megaloblastic anemia due to folate deficiency in pregnancy and lactation (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Megaloblastic anemia due to folate deficiency in prematurity (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Autoimmune pancytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Immune thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Acquired pancytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Neonatal thrombocytopenia associated with maternal idiopathic thrombocytopenic purpura |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Chronic idiopathic thrombocytopenic purpura (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Drug-induced immune thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Transient neonatal thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
T activation syndrome |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
purpura thrombopénique aigu idiopathique |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to extracorporeal circulation (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Fanconi's anemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
purpura thrombopénique idiopathique |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Post infectious thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia due to hypothermia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Wiskott-Aldrich syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Sex-linked thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Doan-Wright syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Estren-Dameshek anemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Cyclic thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia due to blood loss |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Dilutional thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Bernard Soulier syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Mediterranean macrothrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Neonatal thrombocytopenia due to idiopathic maternal thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia due to hypersplenism |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Posttransfusion purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Heparin-induced thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Acquired thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Evans syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Thrombotic thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Thrombocytopenia due to diminished platelet production |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia due to defective platelet production |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Neonatal thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Radial aplasia-thrombocytopenia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Thrombocytopenia due to non-immune destruction |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Neonatal thrombocytopenia due to exchange transfusion |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
HELLP syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Heparin-induced thrombocytopenia with thrombosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Pancytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Benign gestational thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
An autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Secondary autoimmune thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Alloimmune thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Alloimmune platelet transfusion refractoriness |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Secondary thrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |