Search on: BLACKFAN DIAMOND SYNDROME 
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Descriptor English:   Anemia, Diamond-Blackfan 
Descriptor Spanish:   Anemia de Diamond-Blackfan 
Descriptor Portuguese:   Anemia de Diamond-Blackfan 
Synonyms English:   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:   C15.378.071.085.080.090
C15.378.071.750.500
C15.378.190.223.500.500.090
C16.320.077.090
Definition English:   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) 
History Note English:   2002; use FANCONI ANEMIA 1992-2001 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   36023 
Unique Identifier:   D029503 

Occurrence in VHL:
 

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