712922002: Myosin heavy chain 9 non muscle related disease (disorder)

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

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 related disease

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 related disease

\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 related disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\MYH9 related disease
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 related disease
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 related disease
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 related disease
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 related disease
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\MYH9 related disease
\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 related disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3286291015 MYH9 related disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3286391017 Myosin heavy chain 9 non muscle related disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3286420011 Myosin heavy chain 9 non muscle related disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3298451012 MYH9-related syndromic thrombocytopenia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3824151000052110 MYH9-relaterad sjukdom sv Synonym (core metadata concept) Active Entire term case sensitive (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 related disease	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
MYH9 related disease	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Some
MYH9 related disease	Finding site	Body system structure	true	Inferred relationship	Some	3
MYH9 related disease	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Some
MYH9 related disease	Has interpretation	Below reference range	true	Inferred relationship	Some	1
MYH9 related disease	Interprets	Platelet count	true	Inferred relationship	Some	1
MYH9 related disease	Interprets	Hemostatic function	true	Inferred relationship	Some	2
MYH9 related disease	Has interpretation	Abnormal	false	Inferred relationship	Some	2
MYH9 related disease	Has interpretation	Abnormal	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets