52951008: Congenital dyserythropoietic anemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Evaluation finding\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
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia
\Disease\Congenital disease\Congenital anemia\Congenital dyserythropoietic anemia

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

Descriptions:

Id Description Lang Type Status Case? Module

88102013 Congenital dyserythropoietic anemia en Synonym Active Entire term case insensitive SNOMED CT core module

88105010 CDA en Synonym Active Entire term case sensitive SNOMED CT core module

496498015 Congenital dyserythropoietic anaemia en Synonym Active Entire term case insensitive SNOMED CT core module

791017014 Congenital dyserythropoietic anemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1216715018 CDA - Congenital dyserythropoietic anaemia en Synonym Active Entire term case sensitive SNOMED CT core module

1218205018 CDA - Congenital dyserythropoietic anemia en Synonym Active Entire term case sensitive SNOMED CT core module

1659651000000119 Congenital dyserythropoiesis en Synonym Active Only initial character case insensitive SNOMED CT United Kingdom Edition module

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	Existential restriction modifier
Congenital dyserythropoietic anemia	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	4
Congenital dyserythropoietic anemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Congenital dyserythropoietic anemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier	5
Congenital dyserythropoietic anemia	Is a	Hereditary red blood cell disorder	true	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Congenital dyserythropoietic anemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Congenital dyserythropoietic anemia	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	1
Congenital dyserythropoietic anemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dyserythropoietic anemia, type III	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type II	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
Congenital dyserythropoiesis NEC	Is a	False	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia type IV	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
X-linked congenital dyserythropoietic anemia with thrombocytopenia	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	True	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier
Congenital dyserythropoiesis NEC	Is a	False	Congenital dyserythropoietic anemia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
88102013	Congenital dyserythropoietic anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
88105010	CDA	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
496498015	Congenital dyserythropoietic anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
791017014	Congenital dyserythropoietic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1216715018	CDA - Congenital dyserythropoietic anaemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1218205018	CDA - Congenital dyserythropoietic anemia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1659651000000119	Congenital dyserythropoiesis	en	Synonym	Active	Only initial character case insensitive	SNOMED CT United Kingdom Edition module