54569005: Bernard Soulier syndrome (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\...

\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome

\Giant platelet syndrome\Bernard Soulier syndrome

\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome

\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome

\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Bernard Soulier syndrome
\Platelet disorder\Inherited platelet disorder\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome
\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome

\Procedure related finding\Evaluation finding\...

\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome

\Functional finding\Disorder of hemostatic system\Platelet disorder\...

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome

\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Inherited platelet disorder\Giant platelet syndrome\Bernard Soulier syndrome
\Inherited platelet disorder\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome
\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Bernard Soulier syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Bernard Soulier syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Bernard Soulier syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Bernard Soulier syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Platelet membrane defect\Glycoprotein Ib defect\Bernard Soulier syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Bernard Soulier syndrome

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

90700012 Bernard Soulier syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
213759014 Hemorrhagic dystrophic thrombocytopenia en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
792814017 Bernard Soulier syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1231353016 Bernard-Soulier syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bernard Soulier syndrome	Is a	Hereditary platelet function disorder (disorder)	true	Inferred relationship	Some
Bernard Soulier syndrome	Is a	Glycoprotein Ib defect	true	Inferred relationship	Some
Bernard Soulier syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Bernard Soulier syndrome	Finding site	Platelet	false	Inferred relationship	Some
Bernard Soulier syndrome	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Bernard Soulier syndrome	Has definitional manifestation	Platelet finding	false	Inferred relationship	Some
Bernard Soulier syndrome	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Bernard Soulier syndrome	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
Bernard Soulier syndrome	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Some
Bernard Soulier syndrome	Finding site	Body system structure	false	Inferred relationship	Some	2
Bernard Soulier syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Bernard Soulier syndrome	Interprets	Platelet count	true	Inferred relationship	Some	1
Bernard Soulier syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Bernard Soulier syndrome	Interprets	Hemostatic function	false	Inferred relationship	Some	3
Bernard Soulier syndrome	Finding site	Body system structure	true	Inferred relationship	Some	2
Bernard Soulier syndrome	Interprets	Hemostatic function	true	Inferred relationship	Some	3
Bernard Soulier syndrome	Is a	Giant platelet syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets