720521008: Autosomal dominant macrothrombocytopenia (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)\Autosomal dominant macrothrombocytopenia (disorder)

\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)

\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)

\Procedure related finding\Evaluation finding\...

\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)

\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...

\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)

\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)

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

\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia (disorder)
\Disease\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Autosomal dominant macrothrombocytopenia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321121010 Autosomal dominant macrothrombocytopenia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321122015 Autosomal dominant macrothrombocytopenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321123013 This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

1006201000172116 macrothrombocytopénie autosomique dominant fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

876851000172114 autosomaal dominante macrotrombocytopenie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant macrothrombocytopenia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant macrothrombocytopenia (disorder)	Finding site	Body system structure	false	Inferred relationship	Some	2
Autosomal dominant macrothrombocytopenia (disorder)	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Autosomal dominant macrothrombocytopenia (disorder)	Interprets	Platelet count	true	Inferred relationship	Some	4
Autosomal dominant macrothrombocytopenia (disorder)	Is a	Congenital thrombocytopenia (disorder)	true	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Is a	Platelet count below reference range (finding)	false	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Is a	Functional finding	false	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Autosomal dominant macrothrombocytopenia (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	3
Autosomal dominant macrothrombocytopenia (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Autosomal dominant macrothrombocytopenia (disorder)	Is a	Giant platelet syndrome	true	Inferred relationship	Some
Autosomal dominant macrothrombocytopenia (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	1

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
3321121010	Autosomal dominant macrothrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321122015	Autosomal dominant macrothrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321123013	This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1006201000172116	macrothrombocytopénie autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
876851000172114	autosomaal dominante macrotrombocytopenie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)