782759001: X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (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\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \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\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \White blood cell disorder\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Functional finding\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Congenital disease\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755642013	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3755644014	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	en	Synonym	Active	Case sensitive	SNOMED CT core
3755648012	X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia	en	Synonym	Active	Case sensitive	SNOMED CT core
3755645010	A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11.	en	Definition	Active	Case sensitive	SNOMED CT core
3755646011	A rare genetic constitutional dyserythropoietic anaemia disorder characterised by moderate to severe anaemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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