59548005: Congenital dyserythropoietic anemia, type I (disorder)

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

\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 (disorder)\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I

\Anaemia\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I
\Anaemia\Anemia due to decreased red cell production (disorder)\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I

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

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I
\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 anaemia\Congenital dyserythropoietic anemia, type I
\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 anaemia\Congenital dyserythropoietic anemia, type I
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I
\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 anaemia\Congenital dyserythropoietic anemia, type I
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anemia, type I

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

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, type I	Is a	Congenital dyserythropoietic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital dyserythropoietic anemia, type I	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital dyserythropoietic anemia, type I	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital dyserythropoietic anemia, type I	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dyserythropoietic anemia, type I	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dyserythropoietic anemia, type I	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dyserythropoietic anemia, type I	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
498466019	Congenital dyserythropoietic anaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
798402013	Congenital dyserythropoietic anemia, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216779019	Congenital dyserythropoietic anaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218267011	Congenital dyserythropoietic anemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
98910011	Congenital dyserythropoietic anemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
498466019	Congenital dyserythropoietic anaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
798402013	Congenital dyserythropoietic anemia, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216779019	Congenital dyserythropoietic anaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218267011	Congenital dyserythropoietic anemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3439581001000112	Anämie, dyserythropoetische, kongenitale, Typ I	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
946541000172118	anémie dysérythropoïétique congénitale type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
963061000172114	anémie dysérythropoïétique congénitale type I	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
946541000172118	anémie dysérythropoïétique congénitale type 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
963061000172114	anémie dysérythropoïétique congénitale type I	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3439581001000112	Anämie, dyserythropoetische, kongenitale, Typ I	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module