718196002: Beta thalassemia X-linked thrombocytopenia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \anémie\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Anemia due to disturbance of hemoglobin synthesis\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
• \Disease\Congenital disease\Hereditary hemoglobinopathy (disorder)\thalassémie\Beta thalassemia (disorder)\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
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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