718196002: Beta thalassemia X-linked thrombocytopenia syndrome (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)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \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)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311472013	Beta thalassemia X-linked thrombocytopenia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311473015	Beta thalassaemia X-linked thrombocytopenia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401712013	Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401713015	Beta-thalassaemia - X-linked thrombocytopenia is a form of beta-thalassaemia characterised by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311471018	Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311472013	Beta thalassemia X-linked thrombocytopenia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3311473015	Beta thalassaemia X-linked thrombocytopenia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401712013	Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401713015	Beta-thalassaemia - X-linked thrombocytopenia is a form of beta-thalassaemia characterised by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448431001000118	Beta-Thalassämie-X-chromosomale Thrombozytopenie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5805911000241110	syndrome de bêta thalassémie et thrombocytopénie liées à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5805921000241115	bêta thalassémie et thrombocytopénie liées à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5805911000241110	syndrome de bêta thalassémie et thrombocytopénie liées à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5805921000241115	bêta thalassémie et thrombocytopénie liées à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448431001000118	Beta-Thalassämie-X-chromosomale Thrombozytopenie-Syndrom	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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