Preferred Label : anemia, diamond-blackfan;
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 synonym : diamond-blackfan anemia; diamond blackfan anemia; anemia, diamond blackfan type; blackfan diamond syndrome; anemia, Diamond-Blackfan type; Diamond-Blackfan type anemia; Blackfan-Diamond syndrome; anemia, diamond blackfan; red cell aplasia, pure, hereditary; erythrogenesis imperfecta; anemia, congenital hypoplastic, of blackfan and diamond; erythrogenesis imperfectas; imperfecta, erythrogenesis; imperfectas, erythrogenesis; blackfan diamond anemia; anemia, blackfan diamond; diamond anemia, blackfan; Blackfan-Diamond disease; blackfan diamond disease; disease, Blackfan-Diamond; 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; hypoplastic congenital anemia; anemia, hypoplastic congenital; anemias, hypoplastic congenital; congenital anemia, hypoplastic; congenital anemias, hypoplastic; hypoplastic congenital anemias; inherited erythroblastopenia; erythroblastopenia, inherited; erythroblastopenias, inherited; inherited erythroblastopenias; pure hereditary red cell aplasia;
CISMeF synonym : Diamond-Blackfan;
Wikipedia link : https://en.wikipedia.org/wiki/Anemia, diamond-blackfan;
Origin ID : D029503;
UMLS CUI : C1260899;
- Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- HPO term
- Localisation(s) d'après SNOMED CT
- Manual NTBT mappings (CISMeF)
- ORDO relation(s)
- Record concept(s)
- Related MeSH Supplementary Concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
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)
http://www.orpha.net/data/patho/Han/Int/fr/AnemieDeBlackfanDiamond_FR_fr_HAN_ORPHA124.pdf
2018
false
false
false
France
French
scientific and technical information
anemia, diamond-blackfan
disabled persons
anemia, diamond-blackfan
Mainstreaming, Education
rare diseases
---
http://www.afmbd.org/
France
French
anemia, diamond-blackfan
association of patients
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=124
http://www.orpha.net/data/patho/Urgences_Blackfan-Diamond-frPro429.pdf
2012
France
French
anemia, diamond-blackfan
emergency treatment
practice guideline
infant
anemia, diamond-blackfan
---
https://www.jle.com/fr/revues/medecine/hma/e-docs/00/04/15/F8/resume.md
https://www.jle.com/fr/revues/medecine/hma/e-docs/00/04/15/F8/telecharger.md?code_langue=fr&format=application/pdf&titre=Version
PDF
France
French
anemia, diamond-blackfan
anemia, diamond-blackfan
anemia, diamond-blackfan
anemia, diamond-blackfan
ribosomes
genetic diseases, inborn
erythropoiesis
ribosomal proteins
journal article
figure
graph
---