718196002: Beta thalassemia X-linked thrombocytopenia syndrome (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\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Blood disease\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Blood disease\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome
• \Disease\Congenital disease\Hereditary haemoglobinopathy\Thalassaemia\Beta thalassaemia\Beta thalassaemia X-linked thrombocytopenia syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311471018	Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3311472013	Beta thalassemia X-linked thrombocytopenia syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3311473015	Beta thalassaemia X-linked thrombocytopenia syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3311474014	A form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked.	en	Definition	Active	Case sensitive	SNOMED CT core
3311475010	A form of beta-thalassaemia characterised by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassaemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked.	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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