Käsitteen tiedot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Anemia, Hypoplastic, Congenital
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Infant, Newborn, Diseases
Congenital Bone Marrow Failure Syndromes
Anemia, Hypoplastic, Congenital
Käytettävä termi
Fanconi Anemia
Tyyppi
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Topical Descriptor
Ohjaustermit
- Anemia, Fanconi
- Anemia, Fanconi's
- Fanconi Hypoplastic Anemia
- Fanconi Pancytopenia
- Fanconi Panmyelopathy
- Fanconi's Anemia
Huomautus
- do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules
Käyttöhuomautus
- 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)
Huomautus muutoshistoriasta
- 2002(1975); was see under ANEMIA, APLASTIC 1975-1990
Muunkieliset termit
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ruotsi
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suomi
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anaemia Fanconi
URI
http://www.yso.fi/onto/mesh/D005199
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