717769007: MYH9 macrothrombocytopenia syndrome (disorder)

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

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\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)\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (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)\MYH9 macrothrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\MYH9 macrothrombocytopenia syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 macrothrombocytopenia syndrome (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)\MYH9 macrothrombocytopenia syndrome (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

3310204017 MYH9 macrothrombocytopenia syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3310205016 MYH9 macrothrombocytopenia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3906841000052110 syndrom med MYH9-relaterad makrotrombocytopeni sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MYH9 macrothrombocytopenia syndrome (disorder)	Is a	Megakaryocytic thrombocytopenia	true	Inferred relationship	Some
MYH9 macrothrombocytopenia syndrome (disorder)	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
MYH9 macrothrombocytopenia syndrome (disorder)	Finding site	Body system structure	true	Inferred relationship	Some	3
MYH9 macrothrombocytopenia syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
MYH9 macrothrombocytopenia syndrome (disorder)	Interprets	Platelet count	true	Inferred relationship	Some	2
MYH9 macrothrombocytopenia syndrome (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	1
MYH9 macrothrombocytopenia syndrome (disorder)	Has interpretation	Abnormal	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
3310204017	MYH9 macrothrombocytopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310205016	MYH9 macrothrombocytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3906841000052110	syndrom med MYH9-relaterad makrotrombocytopeni	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)