Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Anemia, Hypoplastic, Congenital
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Infant, Newborn, Diseases
Congenital Bone Marrow Failure Syndromes
Anemia, Hypoplastic, Congenital
...
Bone Marrow Diseases
Bone Marrow Failure Disorders
Congenital Bone Marrow Failure Syndromes
Anemia, Hypoplastic, Congenital
Preferred term
Anemia, Diamond-Blackfan
Type
-
Topical Descriptor
Broader concept
Entry terms
- Anemia, Blackfan Diamond
- Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
- Anemia, Diamond Blackfan Type
- Anemia, Diamond-Blackfan Type
- Anemia, Hypoplastic Congenital
- Anemias, Hypoplastic Congenital
- Blackfan Diamond Anemia
- Blackfan Diamond Disease
- Blackfan-Diamond Disease
- Blackfan Diamond Syndrome
- 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
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)
History note
- 2002; use FANCONI ANEMIA 1992-2001
In other languages
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Finnish
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Blackfan-Diamond
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Blackfan-Diamondin anemia
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Blackfan-Diamondin oireyhtymä
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Blackfan-Diamondin syndrooma
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Diamond-Blackfan
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Diamond-Blackfanin oireyhtymä
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Diamond-Blackfanin syndrooma
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Swedish
URI
http://www.yso.fi/onto/mesh/D029503
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