720521008: Autosomal dominant macrothrombocytopenia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\...

\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia

\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia

\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia

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

\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant macrothrombocytopenia
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Autosomal dominant macrothrombocytopenia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Giant platelet syndrome\Autosomal dominant macrothrombocytopenia
\Disease\Congenital disease\Congenital thrombocytopenia\Autosomal dominant macrothrombocytopenia

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3321122015 Autosomal dominant macrothrombocytopenia en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321121010	Autosomal dominant macrothrombocytopenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321122015	Autosomal dominant macrothrombocytopenia	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core