loading...| Preferred Name | Anemia, Diamond-Blackfan [Disease/Finding] | |
| Synonyms |
Inherited Erythroblastopenia Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Erythrogenesis Imperfecta Chronic Congenital Agenerative Anemia Blackfan-Diamond Syndrome Congenital Pure Red Cell Aplasia Blackfan-Diamond Disease Congenital Pure Red Cell Anemia Pure Hereditary Red Cell Aplasia Congenital Erythroid Hypoplastic Anemia Hypoplastic Congenital Anemia Congenital Hypoplastic Anemia of Blackfan and Diamond Anemia, Diamond-Blackfan Red Cell Aplasia, Pure, Hereditary Anemia, Diamond-Blackfan Type Diamond-Blackfan Anemia Blackfan Diamond Anemia |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000010983 |
|
| altLabel |
Inherited Erythroblastopenia Anemia, Congenital Hypoplastic, Of Blackfan And Diamond Erythrogenesis Imperfecta Chronic Congenital Agenerative Anemia Blackfan-Diamond Syndrome Congenital Pure Red Cell Aplasia Blackfan-Diamond Disease Congenital Pure Red Cell Anemia Pure Hereditary Red Cell Aplasia Congenital Erythroid Hypoplastic Anemia Hypoplastic Congenital Anemia Congenital Hypoplastic Anemia of Blackfan and Diamond Anemia, Diamond-Blackfan Red Cell Aplasia, Pure, Hereditary Anemia, Diamond-Blackfan Type Diamond-Blackfan Anemia Blackfan Diamond Anemia |
|
| cui |
C1260899 |
|
| MESH 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) |
|
| MESH DUI |
D029503 |
|
| MeSH name |
Anemia, Diamond-Blackfan |
|
| MESH UI |
M0384815 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000010983 |
|
| NUI |
N0000010983 |
|
| prefLabel |
Anemia, Diamond-Blackfan [Disease/Finding] |
|
| SNOMED CID |
88854002 |
|
| tui |
T047 |
|
| subClassOf |