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Familial platelet disorder with associated myeloid malignancy

^ http://www.orpha.net/ORDO/Orphanet_71290


A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.

Synonyms: Familial platelet disorder with predisposition to myeloid malignancy, FPDMM, FPS/AML, FPD/AML, Familial platelet disorder with predisposition to acute myelogenous leukemia, Familial thrombocytopenia with propensity to acute myelogenous leukemia, Familial platelet disorder with propensity to acute myeloid leukemia

Term info

database cross reference
  • OMIM:616216 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:D69.4 (Attributed)
  • UMLS:C1832388 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:D69.4 (NTBT (narrower term maps to a broader term))
  • OMIM:601399 (BTNT (broader term maps to a narrower term))
hasDbXref

ICD-10:D69.4, OMIM:601399, OMIM:616216, UMLS:C1832388

notation

ORPHA:71290