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
3316418019	A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316419010	A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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