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

SNOMED CT Concept\Clinical 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\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease
\Evaluation finding\Measurement finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease
\Evaluation finding\Hematopoietic system finding\Hemostatic system finding\Finding of platelet count\Platelet count outside reference range\Platelet count below reference range\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease

\Disease\Genetic disease\Myosin heavy chain 9 non muscle related disease
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease
\Disease\Congenital disease\Congenital thrombocytopenia\Myosin heavy chain 9 non muscle related disease

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

Descriptions:

Id Description Lang Type Status Case? Module

3286291015 MYH9 related disease en Synonym Active Entire term case sensitive SNOMED CT core module
3286391017 Myosin heavy chain 9 non muscle related disease en Synonym Active Entire term case insensitive SNOMED CT core module
3286420011 Myosin heavy chain 9 non muscle related disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3298451012 MYH9-related syndromic thrombocytopenia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myosin heavy chain 9 non muscle related disease	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
Myosin heavy chain 9 non muscle related disease	Is a	Hereditary thrombocytopenic disorder	false	Inferred relationship	Existential restriction modifier
Myosin heavy chain 9 non muscle related disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier	3
Myosin heavy chain 9 non muscle related disease	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Existential restriction modifier
Myosin heavy chain 9 non muscle related disease	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Myosin heavy chain 9 non muscle related disease	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier	1
Myosin heavy chain 9 non muscle related disease	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier	2
Myosin heavy chain 9 non muscle related disease	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier	2
Myosin heavy chain 9 non muscle related disease	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Myosin heavy chain 9 non muscle related disease	Is a	Congenital thrombocytopenia	true	Inferred relationship	Existential restriction modifier
Myosin heavy chain 9 non muscle related disease	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Myosin heavy chain 9 non muscle related disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Myosin heavy chain 9 non muscle related disease	Associated morphology	Giant platelet	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3286291015	MYH9 related disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3286391017	Myosin heavy chain 9 non muscle related disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3286420011	Myosin heavy chain 9 non muscle related disease (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3298451012	MYH9-related syndromic thrombocytopenia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module