719453009: Congenital dyserythropoietic anemia type IV (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Congenital dyserythropoietic anaemia type IV
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Blood disease\Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV
• \Disease\Congenital disease\Congenital anaemia\Congenital dyserythropoietic anaemia\Congenital dyserythropoietic anaemia type IV

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3316414017	Congenital dyserythropoietic anemia type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3316415016	Congenital dyserythropoietic anaemia type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3316416015	Congenital dyserythropoietic anemia type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3316417012	Congenital dyserythropoietic anaemia type 4	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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