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Descriptor English: Anemia, Diamond-Blackfan
Descriptor Spanish: Anemia de Diamond-Blackfan
Descriptor anemia de Diamond-Blackfan
Entry term(s) anemia de Blackfan-Diamond
Scope note: Anemia hipoplásica congénita, rara, que suele presentarse en la primera infancia. Esta enfermedad se caracteriza por una anemia macrocítica moderada o intensa, ocasionalmente acompañada de neutropenia o trombocitosis, una médula ósea normocelular con hipoplasia eritroidea, y un mayor riesgo de desarrollo de leucemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
Descriptor Portuguese: Anemia de Diamond-Blackfan
Descriptor French: Anémie de Blackfan-Diamond
Entry term(s): Anemia, Blackfan Diamond
Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
Anemia, Diamond Blackfan
Anemia, Diamond Blackfan Type
Anemia, Diamond-Blackfan Type
Anemia, Hypoplastic Congenital
Anemias, Hypoplastic Congenital
Blackfan Diamond Anemia
Blackfan Diamond Disease
Blackfan Diamond Syndrome
Blackfan-Diamond Disease
Blackfan-Diamond Syndrome
Chronic Congenital Agenerative Anemia
Congenital Anemia, Hypoplastic
Congenital Anemias, Hypoplastic
Congenital Erythroid Hypoplastic Anemia
Congenital Hypoplastic Anemia of Blackfan and Diamond
Congenital Pure Red Cell Anemia
Congenital Pure Red Cell Aplasia
Diamond Anemia, Blackfan
Diamond Blackfan Anemia
Diamond-Blackfan Anemia
Diamond-Blackfan Type Anemia
Disease, Blackfan-Diamond
Erythroblastopenia, Inherited
Erythroblastopenias, Inherited
Erythrogenesis Imperfecta
Erythrogenesis Imperfectas
Hypoplastic Congenital Anemia
Hypoplastic Congenital Anemias
Imperfecta, Erythrogenesis
Imperfectas, Erythrogenesis
Inherited Erythroblastopenia
Inherited Erythroblastopenias
Pure Hereditary Red Cell Aplasia
Red Cell Aplasia, Pure, Hereditary
Tree number(s): C15.378.050.085.080.090
C15.378.050.750.500
C15.378.190.223.500.500.090
C16.320.077.090
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D029503
Scope note: A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
Allowable Qualifiers: 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
Previous Indexing: Anemia, Aplastic (1974-1991)
Fanconi Anemia (1992-2001)
Public MeSH Note: 2002; see FANCONI ANEMIA 1992-2001
History Note: 2002; use FANCONI ANEMIA 1992-2001
DeCS ID: 36023
Unique ID: D029503
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2002/01/01
Date of Entry: 2001/07/25
Revision Date: 2013/07/08
Anemia, Diamond-Blackfan - Preferred
Concept UI M0384815
Scope note A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
Preferred term Anemia, Diamond-Blackfan
Entry term(s) Anemia, Blackfan Diamond
Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
Anemia, Diamond Blackfan
Anemia, Diamond Blackfan Type
Anemia, Diamond-Blackfan Type
Anemia, Hypoplastic Congenital
Anemias, Hypoplastic Congenital
Blackfan Diamond Anemia
Blackfan Diamond Disease
Blackfan Diamond Syndrome
Blackfan-Diamond Disease
Blackfan-Diamond Syndrome
Chronic Congenital Agenerative Anemia
Congenital Anemia, Hypoplastic
Congenital Anemias, Hypoplastic
Congenital Erythroid Hypoplastic Anemia
Congenital Hypoplastic Anemia of Blackfan and Diamond
Congenital Pure Red Cell Anemia
Congenital Pure Red Cell Aplasia
Diamond Anemia, Blackfan
Diamond Blackfan Anemia
Diamond-Blackfan Anemia
Diamond-Blackfan Type Anemia
Disease, Blackfan-Diamond
Erythroblastopenia, Inherited
Erythroblastopenias, Inherited
Erythrogenesis Imperfecta
Erythrogenesis Imperfectas
Hypoplastic Congenital Anemia
Hypoplastic Congenital Anemias
Imperfecta, Erythrogenesis
Imperfectas, Erythrogenesis
Inherited Erythroblastopenia
Inherited Erythroblastopenias
Pure Hereditary Red Cell Aplasia
Red Cell Aplasia, Pure, Hereditary



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