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

SNOMED CT Concept\Clinical finding (finding)\...

\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\Thalassemia\Beta thalassemia\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\Thalassemia\Beta thalassemia\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\Thalassemia\Beta thalassemia\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\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 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\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\Disorder of body system\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\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Beta thalassemia\Beta thalassemia X-linked thrombocytopenia syndrome (disorder)
\Disease\Congenital disease (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

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

3870671000052119 X-bunden trombocytopeni med betatalassemi sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Is a	Beta thalassemia	true	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Finding site	Erythrocyte	false	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	1
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Interprets	Red blood cell count	false	Inferred relationship	Some	1
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Is a	Congenital anemia	false	Inferred relationship	Some
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	3
Beta thalassemia X-linked thrombocytopenia syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
3870671000052119	X-bunden trombocytopeni med betatalassemi	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)