| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Radial aplasia-thrombocytopenia syndrome |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| syndrome d'Epstein |
Is a |
False |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Bernard Soulier syndrome |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder) |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Wiskott-Aldrich syndrome |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Fanconi's anemia |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
False |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| MYH9 macrothrombocytopenia syndrome |
Is a |
False |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| May-Hegglin anomaly |
Is a |
False |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| X-linked thrombocytopenia with normal platelets (disorder) |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect |
Is a |
True |
Hereditary thrombocytopenic disorder (disorder) |
Inferred relationship |
Some |
|
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