68870007: Congenital dyserythropoietic anemia, type II (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 II

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

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

\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 II
\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 II
\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 II
\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 II
\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 II
\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 II
\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 II

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

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

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 II	Is a	Congenital dyserythropoietic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital dyserythropoietic anemia, type II	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital dyserythropoietic anemia, type II	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital dyserythropoietic anemia, type II	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dyserythropoietic anemia, type II	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dyserythropoietic anemia, type II	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dyserythropoietic anemia, type II	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
114389011	Congenital dyserythropoietic anemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501113010	Congenital dyserythropoietic anaemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
808752017	Congenital dyserythropoietic anemia, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233095010	Hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244045018	HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
114389011	Congenital dyserythropoietic anemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
114390019	HEMPAS	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501113010	Congenital dyserythropoietic anaemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
808752017	Congenital dyserythropoietic anemia, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233094014	Hereditary erythroblast multinuclearity with positive acid serum test (disorder)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233095010	Hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233095010	Hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233096011	HEMPAS - Hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233096011	HEMPAS - Hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244045018	HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3445151001000110	Anämie, dyserythropoetische, kongenitale, Typ II	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875991000172116	anémie dysérythropoïétique congénitale type II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
947591000172114	anémie dysérythropoïétique congénitale type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875991000172116	anémie dysérythropoïétique congénitale type II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
947591000172114	anémie dysérythropoïétique congénitale type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445151001000110	Anämie, dyserythropoetische, kongenitale, Typ II	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module