Hematology
Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
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Hematology syndromes
58
Hematology
Aase–Smith syndrome
Congenital hypoplastic anemia with triphalangeal thumbs and heart defects.
Hematology Acute chest syndrome
Pulmonary complication of sickle cell disease.
Hematology Antiphospholipid syndrome
Autoimmune hypercoagulable state with antiphospholipid antibodies, thrombosis and pregnancy loss.
Hematology Autoimmune lymphoproliferative syndrome
Defective lymphocyte apoptosis with lymphoproliferation and autoimmune cytopenias.
Hematology Bernard–Soulier syndrome
Macrothrombocytopenia with defective platelet adhesion due to GPIb-IX-V deficiency.
Hematology Bloom syndrome
Short stature with photosensitive rash and cancer predisposition.
Hematology Cartilage–hair hypoplasia syndrome
Short-limbed dwarfism with sparse hair and immunodeficiency.
Hematology Chediak–Higashi syndrome
Partial albinism, immunodeficiency and giant lysosomes with accelerated phase.
Hematology Chronic granulomatous disease syndrome
Phagocyte NADPH oxidase defect with recurrent infections and granulomas.
Hematology Cobalamin C syndrome
Combined methylmalonic aciduria and homocystinuria with megaloblastic anemia and thrombotic microangiopathy.
Hematology Cold agglutinin syndrome
Cold-antibody autoimmune hemolytic anemia.
Hematology Cyclic neutropenia syndrome
Periodic oscillation of neutrophil counts about every 21 days.
Hematology Diamond–Blackfan anemia
Congenital red cell aplasia presenting in infancy with macrocytic anemia and physical anomalies.
Hematology Disseminated intravascular coagulation syndrome
Systemic activation of coagulation with consumption of clotting factors and platelets.
Hematology Donath–Landsteiner syndrome
Biphasic IgG hemolysin causing hemolysis after cold exposure.
Hematology Dyskeratosis congenita
Telomere biology disorder with mucocutaneous triad and marrow failure.
Hematology Evans syndrome
Combined autoimmune hemolytic anemia and immune thrombocytopenia.
Hematology Fanconi anemia
Inherited bone marrow failure with congenital anomalies and cancer predisposition due to defective DNA interstrand crosslink repair.
Hematology Felty syndrome
Triad of rheumatoid arthritis, neutropenia and splenomegaly.
Hematology Folate malabsorption syndrome
Megaloblastic anemia and neurologic problems from impaired intestinal folate absorption.
Hematology GATA2 deficiency syndrome
Immunodeficiency with myelodysplasia, monocytopenia and lymphedema.
Hematology Gray platelet syndrome
Macrothrombocytopenia with absent platelet alpha-granules.
Hematology Griscelli syndrome
Hypopigmentation with hemophagocytic syndrome in type 2.
Hematology Hand–foot syndrome
Painful swelling of hands and feet in infants with sickle cell disease.