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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Anemia, Hypoplastic, Congenital > Anemia, Diamond-Blackfan
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Congenital Bone Marrow Failure Syndromes > Anemia, Hypoplastic, Congenital > Anemia, Diamond-Blackfan
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Congenital Bone Marrow Failure Syndromes > Anemia, Hypoplastic, Congenital > Anemia, Diamond-Blackfan
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Anemia > Anemia, Aplastic > Anemia, Hypoplastic, Congenital > Anemia, Diamond-Blackfan
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Anemia, Aplastic > Anemia, Hypoplastic, Congenital > Anemia, Diamond-Blackfan
Hemic and Lymphatic Diseases > Hematologic Diseases > Anemia > Red-Cell Aplasia, Pure > Anemia, Diamond-Blackfan

Preferred term

Anemia, Diamond-Blackfan  

Type

  • mesh:Descriptor

Definition

  • 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)

Broader concept

Entry terms

  • Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
  • Anemia, Diamond-Blackfan Type
  • Blackfan Diamond Anemia
  • Blackfan-Diamond Disease
  • Blackfan-Diamond Syndrome
  • Chronic Congenital Agenerative Anemia
  • Congenital Erythroid Hypoplastic Anemia
  • Congenital Hypoplastic Anemia of Blackfan and Diamond
  • Congenital Pure Red Cell Anemia
  • Congenital Pure Red Cell Aplasia
  • Diamond-Blackfan Anemia
  • Erythrogenesis Imperfecta
  • Hypoplastic Congenital Anemia
  • Inherited Erythroblastopenia
  • Pure Hereditary Red Cell Aplasia
  • Red Cell Aplasia, Pure, Hereditary

Allowable Qualifier(s)

In other languages

  • Anémie de Blackfan-Diamond

    French

  • ABD (Anémie de Blackfan-Diamond)
  • Anémie de type Blackfan-Diamond
  • Anémie hypoplasique congénitale de Blackfan-Diamond
  • Érythroblastopénie chronique congénitale
  • Érythroblastopénie congénitale
  • Érythroblastopénie constitutionnelle
  • Maladie de Blackfan-Diamond
  • Syndrome de Blackfan-Diamond

URI

http://data.loterre.fr/ark:/67375/JVR-TC4H7LQP-G

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