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52951008: Congenital dyserythropoietic anemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
88102013 Congenital dyserythropoietic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496498015 Congenital dyserythropoietic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
791017014 Congenital dyserythropoietic anemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5244035015 CDA - congenital dyserythropoietic anaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244036019 CDA - congenital dyserythropoietic anemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
886381000172115 CDA - congenital dyserythropoietic anemia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989861000172116 anémie dysérythropoïétique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394691001000111 Anämie, dyserythropoetische kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital dyserythropoietic anemia Is a Anemia due to decreased red cell production true Inferred relationship Some
Congenital dyserythropoietic anemia Is a Congenital anemia true Inferred relationship Some
Congenital dyserythropoietic anemia Finding site Erythrocyte (cell) true Inferred relationship Some 4
Congenital dyserythropoietic anemia Occurrence Congenital true Inferred relationship Some 3
Congenital dyserythropoietic anemia Interprets Decreased erythrocyte production false Inferred relationship Some
Congenital dyserythropoietic anemia Finding site Hematopoietic system structure false Inferred relationship Some
Congenital dyserythropoietic anemia Has definitional manifestation Decreased erythrocyte production false Inferred relationship Some
Congenital dyserythropoietic anemia Has definitional manifestation érythropénie false Inferred relationship Some
Congenital dyserythropoietic anemia Finding site Hematopoietic system structure false Inferred relationship Some
Congenital dyserythropoietic anemia Is a Hereditary disease false Inferred relationship Some
Congenital dyserythropoietic anemia Due to Decreased erythrocyte production true Inferred relationship Some 5
Congenital dyserythropoietic anemia Is a Hereditary red blood cell disorder (disorder) true Inferred relationship Some
Congenital dyserythropoietic anemia Has interpretation Below reference range true Inferred relationship Some 1
Congenital dyserythropoietic anemia Has interpretation Below reference range true Inferred relationship Some 2
Congenital dyserythropoietic anemia Interprets Measurement of total haemoglobin concentration true Inferred relationship Some 1
Congenital dyserythropoietic anemia Interprets Red blood cell count true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital dyserythropoietic anemia, type III Is a True Congenital dyserythropoietic anemia Inferred relationship Some
Congenital dyserythropoietic anemia, type I Is a True Congenital dyserythropoietic anemia Inferred relationship Some
Congenital dyserythropoietic anemia, type II Is a True Congenital dyserythropoietic anemia Inferred relationship Some
Congenital dyserythropoiesis NEC Is a False Congenital dyserythropoietic anemia Inferred relationship Some
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Is a True Congenital dyserythropoietic anemia Inferred relationship Some
Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. Is a True Congenital dyserythropoietic anemia Inferred relationship Some
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Is a True Congenital dyserythropoietic anemia Inferred relationship Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Is a True Congenital dyserythropoietic anemia Inferred relationship Some
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. Is a True Congenital dyserythropoietic anemia Inferred relationship Some

This concept is not in any reference sets

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