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 (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Anemia\Congenital anemia\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\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)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\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 thrombocytopenia (disorder)\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 (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\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 thrombocytopenia (disorder)\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 anemia\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 anemia\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 thrombocytopenia (disorder)\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 anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Measurement finding\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 (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Hematopoietic system finding\Hemostatic system finding\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 thrombocytopenia (disorder)\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\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary 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 (disorder)\Congenital thrombocytopenia (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (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\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\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 thrombocytopenia (disorder)\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\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\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 anemia\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

Expanded Value Set

Reference Sets

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

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