Congenital Dyserythropoietic Anemia

Preferred Label : Congenital Dyserythropoietic Anemia;

Alternative definition : NICHD: A rare group of disorders that result in anemia that is caused by ineffective erythropoiesis, which is associated with multinuclear erythroblasts, and which may present in childhood. The most common mutations are in the CDAN1 and SEC23B genes.;

Details

Origin ID

C84646;

UMLS CUI

C0002876;

Currated CISMeF NLP mapping
- Anemia, congenital dyserythropoietic [OMIM phenotypic series]
- Congenital dyserythropoietic anaemia [ICD-11 Category]
- Congenital dyserythropoietic anaemia [ICD-10 Sub-category (who)]
- Congenital dyserythropoietic anemia [ICD-10 Sub-category]
- Congenital dyserythropoietic anemia [PASCAL descriptor]
- Congenital dyserythropoietic anemia [MedDRA LLT]
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia (disorder) [SNOMED CT concept]
- Congenital hypoplastic anemia [HPO term]
- anemia, dyserythropoietic, congenital [MeSH Descriptor]
- anemia, dyserythropoietic, congenital [MeSH concept]
- congenital dyserythropoietic anemia [Disease (Nov.)]
- congenital dyserythropoietic anemia [DO Concept]
- congenital dyserythropoietic anemia, nos [SNOMED Notion]
DO Cross reference
- congenital dyserythropoietic anemia [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital dyserythropoietic anaemia [MedDRA Preferred Term]
- Congenital dyserythropoietic anaemia [ICD-10 Sub-category (who)]
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia [ICD-10 Sub-category]
- Congenital dyserythropoietic anemia [MedDRA LLT]
- Congenital dyserythropoietic anemia (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital [MeSH Descriptor]
- anemia, dyserythropoietic, congenital [MeSH concept]
- congenital dyserythropoietic anemia [DO Concept]
- congenital dyserythropoietic anemia [Disease (Nov.)]
- congenital dyserythropoietic anemia, nos [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- CDAN1 Gene [NCIt concept]
- SEC23B Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDAN1 Gene [NCIt concept]
- CDAN1 wt Allele [NCIt concept]
- SEC23B Gene [NCIt concept]
- SEC23B wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients