52951008: Congenital dyserythropoietic anemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia

\Anemia\Congenital anemia\Congenital dyserythropoietic anemia
\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia

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

Descriptions:

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	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	Erythropenia	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 (disorder)	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Some
Majeed syndrome	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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