782759001: X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (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 white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Anaemia\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Anaemia\Anemia due to decreased red cell production (disorder)\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \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\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \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\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (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 anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (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 anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\White blood cell number - finding\White cell count abnormal\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\White blood cell number - finding\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Measurement finding\White blood cell number - finding\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \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\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \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\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\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 anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\Anaemia\Anemia due to decreased red cell production (disorder)\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \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\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755644014	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755648012	X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755642013	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755644014	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755648012	X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3395121001000118	X-chromosomale dyserythropoetische Anämie mit abnormen Blutplättchen und Neutropenie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395121001000118	X-chromosomale dyserythropoetische Anämie mit abnormen Blutplättchen und Neutropenie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start