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Items: 3

1.

Catastrophic antiphospholipid syndrome

A rare systemic autoimmune disease characterized by acute onset of life-threatening thromboses in three or more organs either simultaneously or within less than a week, in the presence of serum antiphospholipid antibodies (such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies), and with histopathological confirmation of small-vessel occlusion in at least one affected organ. The condition occurs in a small subset of patients with antiphospholipid syndrome, often precipitated by infection, trauma, or surgery. [from ORDO]

MedGen UID:
783641
Concept ID:
C3662487
Disease or Syndrome
2.

Cryopyrin associated periodic syndrome

Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms). [from ORDO]

MedGen UID:
412215
Concept ID:
C2316212
Disease or Syndrome
3.

Early-onset anterior polar cataract

A polar cataract that affects the anterior pole of the lens. [from HPO]

MedGen UID:
340806
Concept ID:
C1855179
Congenital Abnormality; Finding
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