Počet záznamov: 1
Fanconiho anémia
Č. záznamu d005199 Dátum 06.06.2025 Typ M - MESH Tematický termín Fanconiho anémia Iný termín Angličtina (Pseudonym) Anemia, Fanconi
Slovenčina (Pseudonym) Fanconiho málokrvnosť
Slovenčina (Pseudonym) Fanconiho hypoplastická anémia
Slovenčina (Pseudonym) Fanconiho pancytopénia
Slovenčina (Pseudonym) Fanconiho panmyelopatia
MDT C15.378.050.085.080.280C15.378.190.223.500.500.280C16.320.077.280C18.452.284.280 Poznámka 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) 
predmetové heslo
Počet záznamov: 1