anemia, diamond-blackfan

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;

Details

Origin ID

D029503;

UMLS CUI

C1260899;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- ABD (body structure) [SNOMED CT concept]
- Congenital hypoplasia of interparietal bone (disorder) [SNOMED CT concept]
- Congenital hypoplasia of metatarsal bone (disorder) [SNOMED CT concept]
- Congenital hypoplastic anemia [HPO term]
- Congenital pure red cell aplasia [ICD-11 Category]
- Constitutional aplastic anaemia [ICD-10 Sub-category (who)]
- Constitutional aplastic anemia [ICD-10 Sub-category]
- Erythrogenesis imperfecta (disorder) [Inactive SNOMED CT concept]
- Hereditary pure red cell aplasia [ICD-11 Subcategory]
- RPS19 wt Allele [NCIt concept]
- congenital hypoplastic anemia [DO Concept]
- ribosomal protein S19 [ORDO Gene]
- ribosomal protein S19 [HGNC gene]
Currated CISMeF NLP mapping
- Aase syndrome (disorder) [SNOMED CT concept]
- Blackfan-Diamond anaemia [ICD-11 More detail]
- Blackfan-Diamond anemia [ORDO Disease]
- Blackfan-Diamond disease [PASCAL descriptor]
- Congenital hypoplastic anemia (disorder) [SNOMED CT concept]
- Congenital pure red cell aplasia (disorder) [Inactive SNOMED CT concept]
- Diamond Blackfan anemia [Disease (Nov.)]
- Diamond-Blackfan Anemia [NCIt concept]
- Diamond-Blackfan anaemia [MedDRA LLT]
- Diamond-Blackfan anemia [DO Concept]
- Diamond-Blackfan anemia [MedDRA LLT]
- Diamond-blackfan anemia [OMIM phenotypic series]
- chronic constitutional pure red cell aplasia [SNOMED Notion]
DO Cross reference
- Diamond-Blackfan anemia [DO Concept]
False automatic mappings
- Orofacial clefting syndrome [ORDO Disease]
HPO term
- Congenital hypoplastic anemia [HPO term]
Localisation(s) d'après SNOMED CT
- bone marrow [MeSH Descriptor]
Manual NTBT mappings (CISMeF)
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare constitutional aplastic anemia [ORDO Disease]
ORDO relation(s)
- Blackfan-Diamond anemia [ORDO Disease]
Record concept(s)
- anemia, Diamond-Blackfan [MeSH concept]
Related MeSH Supplementary Concept(s)
- Aase Smith syndrome 2 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 1 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 10 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 4 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 5 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 7 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 8 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 9 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia with microtia and cleft palate [MeSH Supplementary Concept]
- anemia, Diamond-Blackfan, 2 [MeSH Supplementary Concept]
- anemia, Diamond-Blackfan, 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hypoplastic anemia [HPO term]
- Congenital hypoplastic anemia (disorder) [SNOMED CT concept]
- Congenital pure red cell aplasia (disorder) [Inactive SNOMED CT concept]
- Diamond-Blackfan Anemia [NCIt concept]
- Diamond-Blackfan anaemia [MedDRA LLT]
- Diamond-Blackfan anemia [MedDRA LLT]
- Diamond-Blackfan anemia [DO Concept]
- chronic constitutional pure red cell aplasia [SNOMED Notion]
- congenital erythroid hypoplasia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Diamond-Blackfan Anemia 1 [NCIt concept]
- Diamond-blackfan anemia 1 [OMIM Phenotype]

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