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Definition (NCI)
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An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias.
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Definition (NCI_NCI-GLOSS)
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A rare inherited disorder in which the bone marrow does not make blood cells. It is usually diagnosed in children between 2 and 15 years old. Symptoms include frequent infections, easy bleeding, and extreme tiredness. People with Fanconi anemia may have a small skeleton and brown spots on the skin. They also have an increased risk of developing certain types of cancer.
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Definition (MSH)
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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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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
D005199
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| ICD10 |
D61.09
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| SnomedCT |
30575002
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| English |
Anemia, Fanconi, Fanconi's Anemia, Anemia, Fanconi's, Fanconi's familial refr.anaem., Primary Erythroid Hypoplasia, Pancytopenia, Congenital, Panmyelopathy, Fanconi, Fanconi's anemia (diagnosis), Fanconi Anemia, Fanconi anemia, Fanconi Anemia [Disease/Finding], fanconi syndrome, congenital pancytopenia, fanconi's anemia, anemia fanconi's, congenital aplastic anemia, fanconi's anaemia, anemia fanconi, fanconi anemia, fanconi anemias, fanconis syndrome, anemia fanconis, constitutional aplastic anemia, Anemias, Fanconi, Fanconi Anemias, Fanconi Pancytopenia, Fanconi Hypoplastic Anemia, Fanconi Panmyelopathy, Fanconi's anemia, Fanconi pancytopenia syndrome, Fanconi's anaemia, Fanconi's familial refractory anaemia, Fanconi's familial refractory anemia, Fanconi's hypoplastic anaemia, Fanconi's hypoplastic anemia, Fanconi's anemia (disorder), Fanconi; anemia, congenital; pancytopenia, pancytopenia; congenital, anemia; Fanconi, FA |
| German |
Fanconi-Anaemie, Anämie, Fanconi-, Fanconi-Anämie |
| Swedish |
Fanconis anemi
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| Japanese |
ﾌｧﾝｺﾆﾋﾝｹﾂ, 貧血-ファンコニー, ファンコニ型再生不良性貧血, ファンコニ貧血, ファンコーニ貧血, ファンコニー貧血, Fanconi貧血, 貧血-Fanconi |
| Czech |
Fanconiho anémie
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| Finnish |
Fanconin anemia
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| Russian |
FANKONI ANEMIIA, ANEMIIA FANKONI, АНЕМИЯ ФАНКОНИ, ФАНКОНИ АНЕМИЯ |
| Polish |
Niedokrwistość Fanconiego
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| Hungarian |
Fanconi anaemia, Fanconi vérszegénység |
| Norwegian |
Fanconis anemi
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| Dutch |
Fanconi; anemie, anemie; Fanconi, congenitaal; pancytopenie, pancytopenie; congenitaal, Anemie, Fanconi-, Constitutionele aplastische anemie, Fanconi-anemie |
| Spanish |
anemia de Fanconi, síndrome de pancitopenia de Fanconi (trastorno), síndrome de pancitopenia de Fanconi, Anemia de Fanconi |
| French |
Anémie de Fanconi, Pancytopénie de Fanconi |
| Italian |
Anemia di Fanconi
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| Portuguese |
Anemia de Fanconi
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