National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Congenital Dyserythropoietic Anemia

Synonyms

Congenital Dyserythropoietic Anemia

Definitions

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.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84646

ALT_DEFINITION

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.

code

C84646

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009

Contributing_Source

NICHD

DEFINITION

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.

FULL_SYN

Congenital Dyserythropoietic Anemia

label

Congenital Dyserythropoietic Anemia

Preferred_Name

Congenital Dyserythropoietic Anemia

prefixIRI

Thesaurus:C84646

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0002876

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35228

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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