- 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)
- Terms
-
Anemia, Diamond-Blackfan
Preferred Term
Term UI
T015954
Date01/09/1991
LexicalTag
EPO
ThesaurusID
NLM (1992)
-
Diamond-Blackfan Anemia
Term UI
T015955
Date01/09/1991
LexicalTag
EPO
ThesaurusID
-
Anemia, Diamond-Blackfan Type
Term UI
T752961
Date06/18/2009
LexicalTag
EPO
ThesaurusID
-
Blackfan-Diamond Syndrome
Term UI
T752962
Date06/18/2009
LexicalTag
EPO
ThesaurusID
-
Erythrogenesis Imperfecta
Term UI
T812534
Date11/15/2011
LexicalTag
NON
ThesaurusID
-
Red Cell Aplasia, Pure, Hereditary
Term UI
T812535
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
Term UI
T812536
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Blackfan Diamond Anemia
Term UI
T841262
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Blackfan-Diamond Disease
Term UI
T841263
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Chronic Congenital Agenerative Anemia
Term UI
T841264
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Congenital Erythroid Hypoplastic Anemia
Term UI
T841265
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Congenital Hypoplastic Anemia of Blackfan and Diamond
Term UI
T841266
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Congenital Pure Red Cell Anemia
Term UI
T841267
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Congenital Pure Red Cell Aplasia
Term UI
T841268
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Hypoplastic Congenital Anemia
Term UI
T841269
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Inherited Erythroblastopenia
Term UI
T841270
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Pure Hereditary Red Cell Aplasia
Term UI
T841271
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)