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AttributesValues
type
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notation
  • C15.378.071.085.080.280
  • C16.320.077.280
  • C18.452.284.280
  • C15.378.190.223.500.500.280
alternative label
  • Anemia, Fanconi
  • Anemia, Fanconi's
  • Anemias, Fanconi
  • Fanconi Anemia
  • Fanconi Anemias
  • Fanconi Hypoplastic Anemia
  • Fanconi Pancytopenia
  • Fanconi Panmyelopathy
  • Fanconi's Anemia
  • Pancytopénie de Fanconi
preferred label
  • Anémie de Fanconi
is in scheme
note
  • Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
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