Congenital Dyserythropoietic Anemia Type II

Preferred Label : Congenital Dyserythropoietic Anemia Type II;

NCIt synonyms : HEMPAS; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; CDA II; CDAN2; SEC23B-CDG;

NCIt definition : An autosomal recessive subtype of congenital dyserythropoietic anemia caused by mutation(s) in the SEC23B gene, encoding protein transport protein Sec23B.;

Détails

Origin ID

C175991;

UMLS CUI

C1306589;

Automatic exact mappings (from CISMeF team)
- Hexamethylphosphoramide [LOINC component]
- SEC23 homolog B, COPII coat complex component [ORDO Gene]
- anemia, dyserythropoietic, congenital [MeSH Descriptor]
- hempa [MeSH Descriptor]
- hempa [MeSH concept]
Currated CISMeF NLP mapping
- Anemia, congenital dyserythropoietic, type II [OMIM Phenotype]
- Congenital dyserythropoietic anemia type II [ORDO Disease]
- Congenital dyserythropoietic anemia, type II (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type II [MeSH concept]
- congenital dyserythropoietic anemia type II [DO Concept]
- congenital dyserythropoietic anemia, type ii [SNOMED Notion]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, congenital dyserythropoietic, type II [OMIM Phenotype]
- Congenital dyserythropoietic anemia type II [ORDO Disease]
- Congenital dyserythropoietic anemia, type II (disorder) [SNOMED CT concept]
- anemia, dyserythropoietic, congenital, type II [MeSH concept]
- congenital dyserythropoietic anemia type II [DO Concept]
- congenital dyserythropoietic anemia, type ii [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease 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
- SEC23B Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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