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Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Fanconi Anemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Anemia, Hypoplastic, Congenital > Fanconi Anemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Congenital Bone Marrow Failure Syndromes > Anemia, Hypoplastic, Congenital > Fanconi Anemia
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Congenital Bone Marrow Failure Syndromes > Anemia, Hypoplastic, Congenital > Fanconi Anemia
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Anemia > Anemia, Aplastic > Anemia, Hypoplastic, Congenital > Fanconi Anemia
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Anemia, Aplastic > Anemia, Hypoplastic, Congenital > Fanconi Anemia

Preferred term

Fanconi Anemia  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Anemia, Fanconi
  • Anemia, Fanconi's
  • Fanconi Hypoplastic Anemia
  • Fanconi Pancytopenia
  • Fanconi Panmyelopathy
  • Fanconi's Anemia

Note

  • do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules

Scope 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)

History note

  • 2002(1975); was see under ANEMIA, APLASTIC 1975-1990

In other languages

URI

http://www.yso.fi/onto/mesh/D005199

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