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 (finding)\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 (finding)\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\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	Haematopoietic 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	Erytrocytopeni	false	Inferred relationship	Some
Congenital dyserythropoietic anemia	Finding site	Haematopoietic 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
kongenit dyserytropoiese, ikke klassificeret andetsteds	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
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. Caused by mutation in the GATA1 gene on chromosome Xp11.	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Some
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance.	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Some

This concept is not in any reference sets

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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
1999791000005116	kongenit dyserytropoietisk anæmi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)