718196002: syndroom van bètathalassemie X-gebonden trombocytopenie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Laboratory test finding (finding)\Hematopoietic system finding\...
• \Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \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)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (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)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)

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
6113731000146114	bètathalassemie-X-gebonden trombocytopenie-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6113751000146115	XLTT	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674541000146118	syndroom van bètathalassemie X-gebonden trombocytopenie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674551000146115	syndroom van bètathalassemie X-gebonden trombocytopenie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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