722475006: X-linked congenital dyserythropoietic anemia with thrombocytopenia (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 congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \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 congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \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 congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \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 congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \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 congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \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 congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Congenital disease\Congenital thrombocytopenia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia
• \Disease\Congenital disease\Congenital anaemia\Congenital dyserythropoietic anaemia\X-linked congenital dyserythropoietic anaemia with thrombocytopenia

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3332320013	X-linked congenital dyserythropoietic anemia with thrombocytopenia	en	Synonym	Active	Case sensitive	SNOMED CT core
3332321012	X-linked congenital dyserythropoietic anaemia with thrombocytopenia	en	Synonym	Active	Case sensitive	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	Case sensitive	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	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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