Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Pure red cell aplasia, acquired |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
Pure red cell aplasia, acquired |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Pure red cell aplasia, acquired |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Hemolytic uremic syndrome, adult type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Mycoplasmal anemia (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Mycoplasmal anemia (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Constitutional red cell hypoplasia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Transient acquired pure red cell aplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Transient acquired pure red cell aplasia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
Transient acquired pure red cell aplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Transient acquired pure red cell aplasia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Cellular immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Cellular immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Cellular immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Cellular immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Anaemia caused by zidovudine |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Anaemia caused by zidovudine |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
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. |
Has interpretation |
True |
Below reference range |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Aplastic anemia associated with metabolic alteration (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Aplastic anemia associated with metabolic alteration (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Aplastic anemia associated with metabolic alteration (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Aplastic anemia associated with metabolic alteration (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Congenital dyserythropoietic anemia, type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital dyserythropoietic anemia, type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Immunologic aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Anemia due to infection |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Anemia due to infection |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Hemolytic uremic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Secondary aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Secondary aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Secondary aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Secondary aplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Acute pure red cell aplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Parvoviral aplastic crisis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Aplastic anemia due to infection |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Pancytopenia caused by medication (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Congenital hypoplastic anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Constitutional aplastic anemia with malformation |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
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 |
3 |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Fanconi's anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
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. |
Has interpretation |
True |
Below reference range |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Anemia due to and following chemotherapy |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Anemia due to and following chemotherapy |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Neutropaenia due to and following chemotherapy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Kasabach-Merritt syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Macrothrombocytopenia with mitral valve insufficiency is 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. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or developmental delay and hepato- and/or splenomegaly are additional reported features. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of right hip (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of left foot |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of left elbow |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of left hip (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of right elbow (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of right foot (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joints of bilateral elbows (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Steroid sensitive nephrotic syndrome of childhood (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
syndrome néphrotique avec lésions glomérulaires mineures |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome co-occurrent and due to membranoproliferative glomerulonephritis type III (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic-nephritic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Steroid resistant nephrotic syndrome of childhood |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Familial mesangial sclerosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome, dense deposit disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Childhood nephrotic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, focal and segmental glomerular lesions |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
LAMB2-related infantile-onset nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome secondary to glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Nephrotic syndrome secondary to systemic disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome co-occurrent with human immunodeficiency virus infection (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome due to type 1 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Multi-drug resistant nephrotic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, diffuse mesangial proliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |