59548005: Congenital dyserythropoietic anemia, type I (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\Congenital dyserythropoietic anemia, type I
\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\Congenital dyserythropoietic anemia, type I
\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\Congenital dyserythropoietic anemia, type I
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia, type I
\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\Congenital dyserythropoietic anemia, type I
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia, type I
\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\Congenital dyserythropoietic anemia, type I
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia, type I
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia, type I

\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\Congenital dyserythropoietic anemia, type I

\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia, type I
\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia, type I

\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia, type I

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

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

98910011 Congenital dyserythropoietic anemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

498466019 Congenital dyserythropoietic anaemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

798402013 Congenital dyserythropoietic anemia, type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1216779019 Congenital dyserythropoietic anaemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

1218267011 Congenital dyserythropoietic anemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dyserythropoietic anemia, type I	Is a	Congenital dyserythropoietic anemia	true	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	4
Congenital dyserythropoietic anemia, type I	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Congenital dyserythropoietic anemia, type I	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital dyserythropoietic anemia, type I	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier	3
Congenital dyserythropoietic anemia, type I	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	2
Congenital dyserythropoietic anemia, type I	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Congenital dyserythropoietic anemia, type I	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	1
Congenital dyserythropoietic anemia, type I	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
98910011	Congenital dyserythropoietic anemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
498466019	Congenital dyserythropoietic anaemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
798402013	Congenital dyserythropoietic anemia, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1216779019	Congenital dyserythropoietic anaemia type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1218267011	Congenital dyserythropoietic anemia type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module