anemia, dyserythropoietic, congenital

Preferred Label : anemia, dyserythropoietic, congenital;

MeSH definition : A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.;

MeSH synonym : congenital dyserythropoietic anemia; dyserythropoietic anemia, congenital; anemia, congenital dyserythropoietic; dyserythropoietic anemias, congenital; anemias, congenital dyserythropoietic; congenital dyserythropoietic anemias;

CISMeF acronym : CDA;

MeSH hyponym : anemia, dyserythropoietic, congenital, type III; anemia, dyserythropoietic, congenital, type I; anemia, dyserythropoietic, congenital, type II; Anemia, Dyserythropoietic, Congenital Type 2; Congenital Dyserythropoietic Anemia Type II; Dyserythropoietic Anemia, Congenital Type 2; Dyserythropoietic Anemia, Congenital, Type II; HEMPAS; HEMPAS Anemia; HEMPAS Anemias; Hereditary Erythroblast Multinuclearity with Positive Acidified Serum; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; Anemia, Dyserythropoietic Congenital, Type II; Anemia, Congenital Dyserythropoietic, Type II; Dyserythropoietic Anemia, HEMPAS Type; Dyserythropoietic Anemia, Congenital, Type III; Congenital Dyserythropoietic Anemia, Type III; Anemia With Multinucleated Erythroblasts; Anemia, Dyserythropoietic Congenital, Type III; Anemia, Dyserythropoietic, Congenital Type 1; Type I Congenital Dyserythropoietic Anemia; Congenital Dyserythropoietic Anemia, Type I; Dyserythropoietic Anemia, Congenital Type 1; Dyserythropoietic Anemia, Congenital, Type I; Anemia, Dyserythropoietic Congenital, Type I; Congenital Dyserythropoietic Anemia Type 1;

Wikipedia link : https://en.wikipedia.org/wiki/Dyserythropoietic anemia, congenital;

Details

Origin ID

D000742;

UMLS CUI

C0002876;

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]
Currated CISMeF NLP mapping
- Anemia, congenital dyserythropoietic [OMIM phenotypic series]
- Congenital Dyserythropoietic Anemia [NCIt concept]
- Congenital dyserythropoietic anaemia [ICD-11 Category]
- Congenital dyserythropoietic anaemia [ICD-10 Sub-category (who)]
- Congenital dyserythropoietic anaemia [MedDRA Preferred Term]
- 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]
- congenital dyserythropoietic anemia [Disease (Nov.)]
- congenital dyserythropoietic anemia [DO Concept]
- congenital dyserythropoietic anemia, nos [SNOMED Notion]
DO Cross reference
- congenital dyserythropoietic anemia [DO Concept]
- congenital dyserythropoietic anemia type II [DO Concept]
- congenital dyserythropoietic anemia type III [DO Concept]
- congenital dyserythropoietic anemia type Ib [DO Concept]
False automatic mappings
- Cladribine [NCIt concept]
HPO term
- Congenital hypoplastic anemia [HPO term]
Indexing information
- CDAN1 protein, human [MeSH Supplementary Concept]
- codanin-1 protein, mouse [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Pancreatic insufficiency-anemia-hyperostosis syndrome [ORDO Disease]
- Thrombocytopenia with congenital dyserythropoietic anemia [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare anemia [ORDO Disease]
- Rare constitutional anemia [ORDO Disease]
ORDO relation(s)
- Congenital dyserythropoietic anemia [ORDO Disease]
Record concept(s)
- anemia, dyserythropoietic, congenital [MeSH concept]
- anemia, dyserythropoietic, congenital, type I [MeSH concept]
- anemia, dyserythropoietic, congenital, type II [MeSH concept]
- anemia, dyserythropoietic, congenital, type III [MeSH concept]
Related MeSH Supplementary Concept(s)
- dyserythropoietic anemia with thrombocytopenia [MeSH Supplementary Concept]
- erythroreticulosis, hereditary benign [MeSH Supplementary Concept]
- exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [MeSH Supplementary Concept]
- majeed syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Dyserythropoietic Anemia [NCIt concept]
- Congenital dyserythropoietic anaemia [ICD-10 Sub-category (who)]
- Congenital dyserythropoietic anaemia [MedDRA Preferred Term]
- Congenital dyserythropoietic anemia [ORDO Disease]
- Congenital dyserythropoietic anemia [ICD-10 Sub-category]
- Congenital dyserythropoietic anemia [MedDRA LLT]
- Congenital dyserythropoietic anemia (disorder) [SNOMED CT concept]
- congenital dyserythropoietic anemia [DO Concept]
- congenital dyserythropoietic anemia [Disease (Nov.)]
- congenital dyserythropoietic anemia, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Anemia, congenital dyserythropoietic, type ia [OMIM Phenotype]
- Anemia, congenital dyserythropoietic, type iiia [OMIM Phenotype]
- Congenital dyserythropoietic anemia type I [ORDO Disease]
- Congenital dyserythropoietic anemia type III [ORDO Disease]
- Congenital dyserythropoietic anemia, type III (disorder) [SNOMED CT concept]
- congenital dyserythropoietic anemia, type i [SNOMED Notion]
- congenital dyserythropoietic anemia, type iii [SNOMED Notion]

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