26409005: Congenital dyserythropoietic anemia, type III (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 anaemia, type III

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

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

\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 anaemia, type III
\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 anaemia, type III
\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 anaemia, type III
\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 anaemia, type III
\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 anaemia, type III
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia, type III
\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 anaemia, type III

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

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

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 anaemia, type III	Is a	Congenital dyserythropoietic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital dyserythropoietic anaemia, type III	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital dyserythropoietic anaemia, type III	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia, type III	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital dyserythropoietic anaemia, type III	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dyserythropoietic anaemia, type III	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dyserythropoietic anaemia, type III	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dyserythropoietic anaemia, type III	Interprets	Measurement of total haemoglobin concentration	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
44231013	Congenital dyserythropoietic anemia, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483225015	Congenital dyserythropoietic anaemia, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
756838012	Congenital dyserythropoietic anemia, type III (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216224014	Congenital dyserythropoietic anaemia type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217727012	Congenital dyserythropoietic anemia type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
44231013	Congenital dyserythropoietic anemia, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
483225015	Congenital dyserythropoietic anaemia, type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
756838012	Congenital dyserythropoietic anemia, type III (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216224014	Congenital dyserythropoietic anaemia type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217727012	Congenital dyserythropoietic anemia type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3382081001000111	Anämie, dyserythropoetische, kongenitale, Typ III	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
879081000172116	anémie dysérythropoïétique congénitale type III	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
979411000172114	anémie dysérythropoïétique congénitale type 3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
879081000172116	anémie dysérythropoïétique congénitale type III	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
979411000172114	anémie dysérythropoïétique congénitale type 3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382081001000111	Anämie, dyserythropoetische, kongenitale, Typ III	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module