722475006: X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Anaemia\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Anaemia\Anemia due to decreased red cell production (disorder)\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Anaemia\Anemia due to decreased red cell production (disorder)\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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
3332319019	X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332320013	X-linked congenital dyserythropoietic anemia with thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332321012	X-linked congenital dyserythropoietic anaemia with thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402962013	Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402963015	Thrombocytopenia with congenital dyserythropoietic anaemia is a rare haematological disorder, seen almost exclusively in males, characterised by moderate to severe thrombocytopenia with haemorrhages with or without the presence of mild to severe anaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332319019	X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332320013	X-linked congenital dyserythropoietic anemia with thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332321012	X-linked congenital dyserythropoietic anaemia with thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332322017	A rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3332323010	A rare haematological disorder, seen almost exclusively in males, characterised by moderate to severe thrombocytopenia with haemorrhages with or without the presence of mild to severe anaemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402962013	Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402963015	Thrombocytopenia with congenital dyserythropoietic anaemia is a rare haematological disorder, seen almost exclusively in males, characterised by moderate to severe thrombocytopenia with haemorrhages with or without the presence of mild to severe anaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3419871001000118	Thrombozytopenie mit kongenitaler dyserythropoetischer Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419871001000118	Thrombozytopenie mit kongenitaler dyserythropoetischer Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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