Pesquisa
Descritor em português: Anemia de Fanconi
Descritor em inglês: Fanconi Anemia
Descritor em espanhol: Anemia de Fanconi
Descritor anemia de Fanconi
Nota de escopo: Anomalía congénita que afecta a los elementos de la médula ósea, con anemia, leucopenia y trombopenia, y malformaciones asociadas cardíacas, renales y de las extremidades, asi como alteraciones pigmentarias de la piel. En esta enfermedad es característica la ruptura cromosómica espontánea, con predisposición a la leucemia. Existen por lo menos 7 grupos complementarios en la anemia de Fanconi: FANCA, FANCB, FANCC, FANCD, FANCE, FANCF, FANCG. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM; 227650, April 23, 2001)
Descritor em francês: Anémie de Fanconi
Termo(s) alternativo(s): Anemia, Fanconi
Anemia, Fanconi's
Anemias, Fanconi
Fanconi Anemias
Fanconi Hypoplastic Anemia
Fanconi Pancytopenia
Fanconi Panmyelopathy
Fanconi's Anemia
Código(s) hierárquico(s): C15.378.050.085.080.280
C15.378.190.223.500.500.280
C16.320.077.280
C18.452.284.280
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D005199
Nota de escopo: 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)
Nota de indexação: do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules
Qualificadores permitidos: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Nota MeSH pública: 2002; see FANCONI'S ANEMIA 1991-2001; was see under ANEMIA, APLASTIC 1975-1990
Nota histórica: 2002(1975); was see under ANEMIA, APLASTIC 1975-1990
Identificador DeCS: 5303
ID do descritor: D005199
Classificação da NLM: WH 175
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/1991
Data de entrada: 11/11/1974
Data de revisão: 08/07/2013
Fanconi Anemia - Conceito preferido
Identificador do conceito M0008227
Nota de escopo 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)
Termo preferido Fanconi Anemia
Termo(s) alternativo(s) Anemia, Fanconi
Anemia, Fanconi's
Anemias, Fanconi
Fanconi Anemias
Fanconi Hypoplastic Anemia
Fanconi Pancytopenia
Fanconi Panmyelopathy
Fanconi's Anemia



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