Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Congenital dyserythropoietic anemia

Synonyms

CDA

Definitions

Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).

ID

http://www.orpha.net/ORDO/Orphanet_85

alternative_term

CDA

definition

Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85

has_age_of_onset

Childhood

has_inheritance

Autosomal recessive

X-linked recessive

Autosomal dominant

hasDbXref

OMIM:224120

OMIM:619789

OMIM:615631

MedDRA:10081457

UMLS:C0002876

OMIM:105600

OMIM:613673

MeSH:D000742

ICD-10:D64.4

ICD-11:3A73

OMIM:224100

label

Congenital dyserythropoietic anemia

notation

Clinical group

ORPHA:85

prefixIRI

ORDO:Orphanet_85

prefLabel

Congenital dyserythropoietic anemia

present_in

Europe AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000

Worldwide AND has_cases/families_value : 740.0 (Case)

Europe AND has_point_prevalence_range : 1-9 / 1 000 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_293830

http://www.orpha.net/ORDO/Orphanet_557492

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