719453009: Congenital dyserythropoietic anemia type IV (disorder)

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

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

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)

\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)
\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)
\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 IV (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)
\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 anemia\Congenital dyserythropoietic anemia type IV (disorder)
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Congenital dyserythropoietic anemia type IV (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3316413011 Congenital dyserythropoietic anemia type IV (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316414017 Congenital dyserythropoietic anemia type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316415016 Congenital dyserythropoietic anaemia type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3316416015 Congenital dyserythropoietic anemia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316417012 Congenital dyserythropoietic anaemia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402118017 Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402119013 Congenital dyserythropoietic anaemia type IV (CDA IV) is a newly discovered form of CDA characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dyserythropoietic anemia type IV (disorder)	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	5
Congenital dyserythropoietic anemia type IV (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Congenital dyserythropoietic anemia type IV (disorder)	Is a	Congenital dyserythropoietic anemia	true	Inferred relationship	Some
Congenital dyserythropoietic anemia type IV (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital dyserythropoietic anemia type IV (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Congenital dyserythropoietic anemia type IV (disorder)	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital dyserythropoietic anemia type IV (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital dyserythropoietic anemia type IV (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital dyserythropoietic anemia type IV (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Congenital dyserythropoietic anemia type IV (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316413011	Congenital dyserythropoietic anemia type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316414017	Congenital dyserythropoietic anemia type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316415016	Congenital dyserythropoietic anaemia type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316416015	Congenital dyserythropoietic anemia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316417012	Congenital dyserythropoietic anaemia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402118017	Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402119013	Congenital dyserythropoietic anaemia type IV (CDA IV) is a newly discovered form of CDA characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core