Blackfan-Diamond anaemia

Preferred Label : Blackfan-Diamond anaemia;

ICD-11 definition : Blackfan-Diamond anemia is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.;

ICD-11 synonym : Blackfan-Diamond disease; Aase syndrome; Blackfan-Diamond hypoplastic congenital anaemia; Aase-Smith2I syndrome; Blackfan-Diamond syndrome;

Details

Origin ID

1355684398;

Currated CISMeF NLP mapping
- Aase syndrome [MedDRA Preferred Term]
- Aase syndrome (disorder) [SNOMED CT concept]
- Blackfan-Diamond anemia [ORDO Disease]
- Blackfan-Diamond disease [PASCAL descriptor]
- Congenital Pure Red Cell Aplasia [NCIt concept]
- Congenital hypoplastic anemia (disorder) [SNOMED CT concept]
- Congenital pure red cell aplasia (disorder) [Inactive SNOMED CT concept]
- Diamond Blackfan anemia [Disease (Nov.)]
- Diamond-Blackfan anaemia [MedDRA LLT]
- Diamond-Blackfan anemia [MedDRA LLT]
- Diamond-Blackfan anemia [DO Concept]
- Diamond-Blackfan anemia 1 [MeSH Supplementary Concept]
- aase syndrome [SNOMED Notion]
- aase syndrome [MeSH concept]
- anemia, Diamond-Blackfan [MeSH concept]
- anemia, diamond-blackfan [MeSH Descriptor]
- chronic constitutional pure red cell aplasia [SNOMED Notion]
Validated automatic mappings to BTNT
- Diamond-Blackfan Anemia 1 [NCIt concept]
- Diamond-blackfan anemia 1 [OMIM Phenotype]
- Diamond-blackfan anemia 15 with mandibulofacial dysostosis [OMIM Phenotype]

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