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Items: 1 to 20 of 37

1.

Thrombocytopenia

A subnormal level of BLOOD PLATELETS.

Year introduced: 1985

2.

Thrombocytopenia, Neonatal Alloimmune

A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES.

Year introduced: 2008

3.

Severe Fever with Thrombocytopenia Syndrome

A tick-borne infection with SEVERE FEVER WITH THROMBOCYTOPENIA SYNDROME BUNYAVIRUS of the genus Phlebovirus. It is associated with fever, THROMBOCYTOPENIA; LEUKOCYTOPENIA, and multiorgan dysfunction. It is found in parts of Asia including China, Japan, Korea and Vietnam and can be transmitted from infected domestic animals and humans.

Year introduced: 2021

4.

Kasabach-Merritt Syndrome

Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA.

Year introduced: 2012

5.

Jacobsen Distal 11q Deletion Syndrome

A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.

Year introduced: 2008

6.

Absent radii and thrombocytopenia [Supplementary Concept]

A hereditary disorder characterized by thrombocytopenia and absence of the radius. However, in contrast to similar disorders like FANCONI ANEMIA, the thumb is preserved. Individuals have low numbers of MEGAKARYOCYTES and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects. This disorder is caused by a combination of null mutation of the RBM8A gene through deletion on one copy of chromosome 1q21.1 and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms (SNPs) in RBM8A on the other. OMIM: 274000

Date introduced: June 25, 2010

7.

Purpura, Thrombocytopenic, Idiopathic

Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms.

Year introduced: 1992

8.

Thrombocytopenia 1 [Supplementary Concept]

Hereditary, X-linked thrombocytopenia caused by mutations in the WISKOTT-ALDRICH SYNDROME PROTEIN (WAS) gene. OMIM: 313900

Date introduced: November 5, 2012

9.

Thrombocytopenia chromosome breakage [Supplementary Concept]

Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage

Date introduced: August 25, 2010

10.

Wiskott-Aldrich Syndrome

A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.

Year introduced: 1985

11.

Thrombocytopenia 3 [Supplementary Concept]

Date introduced: November 5, 2012

12.

Thrombocytopenia 4 [Supplementary Concept]

Date introduced: November 5, 2012

13.
15.

Congenital amegakaryocytic thrombocytopenia [Supplementary Concept]

A rare autosomal recessive disorder with onset in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Mutations in the MPL gene have been identified. OMIM: 604498

Date introduced: August 25, 2010

16.

Phlebovirus

A genus of the family BUNYAVIRIDAE comprising many viruses, most of which are transmitted by Phlebotomus flies and cause PHLEBOTOMUS FEVER. The type species is RIFT VALLEY FEVER VIRUS.

Year introduced: 1992

17.

Purpura, Thrombotic Thrombocytopenic

An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases.

Year introduced: 1986

18.

ANKRD26 protein, human [Supplementary Concept]

RefSeq NM_014915

Date introduced: September 25, 2013

19.
20.

DK Phocomelia Syndrome [Supplementary Concept]

Date introduced: November 5, 2012

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