234477002: Thromboxane synthetase deficiency (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency

\Platelet disorder (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency

\Functional finding\Disorder of hemostatic system\Platelet disorder (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency
\Disease\Disorder of hemostatic system\Platelet disorder (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Thromboxane generation defect\Thromboxane synthetase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

351311017 Thromboxane synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622802016 Thromboxane synthetase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3935991000005117 thromboxansynthetasemangel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thromboxane synthetase deficiency	Is a	Thromboxane generation defect	true	Inferred relationship	Some
Thromboxane synthetase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Thromboxane synthetase deficiency	Finding site	Platelet	false	Inferred relationship	Some
Thromboxane synthetase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Thromboxane synthetase deficiency	Has definitional manifestation	Platelet finding	false	Inferred relationship	Some
Thromboxane synthetase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Thromboxane synthetase deficiency	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Thromboxane synthetase deficiency	Finding site	Body system structure	false	Inferred relationship	Some	1
Thromboxane synthetase deficiency	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Thromboxane synthetase deficiency	Interprets	Haemostatic function	true	Inferred relationship	Some	2
Thromboxane synthetase deficiency	Finding site	Body system structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic isolated constitutional thrombocytopenia disease with characteristics of impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (for example easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). Conferred by heterozygous mutation in the gene encoding the thromboxane A2 receptor (TBXA2R) on chromosome 19p13.	Due to	True	Thromboxane synthetase deficiency	Inferred relationship	Some	3

This concept is not in any reference sets