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

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\MYH9 related disease

\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)\MYH9 related disease
\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)\MYH9 related disease
\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)\MYH9 related disease
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\MYH9 related disease

\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)\MYH9 related disease

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\MYH9 related disease

\Disease\Genetic disease\MYH9 related disease
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\MYH9 related disease
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\MYH9 related disease
\Disease\Congenital disease (disorder)\Congenital thrombocytopenia (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 Entire term case sensitive (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 Entire term case sensitive (core metadata concept) SNOMED CT core

5072666017 MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype and characteristics of congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease. Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. MYH9-RD is due to mutations in the MYH9 gene (22q13.1), encoding the heavy chain of the isoform A of the non-muscle myosin of class II (myosin-9). MYH9-RD is inherited in an autosomal dominant manner with sporadic de novo mutations also being observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4810861000172112 MYH9-gerelateerde trombocytopenie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4810871000172115 erfelijke trombocytopenie door mutatie in gen voor myosine-zwareketeneiwit 9 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
MYH9 related disease	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
MYH9 related disease	Is a	Hereditary thrombocytopenic disorder (disorder)	false	Inferred relationship	Some
MYH9 related disease	Finding site	Body system structure	false	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
MYH9 related disease	Is a	Congenital thrombocytopenia (disorder)	true	Inferred relationship	Some
MYH9 related disease	Is a	Genetic disease	true	Inferred relationship	Some
MYH9 related disease	Occurrence	Congenital	true	Inferred relationship	Some	3
MYH9 related disease	Associated morphology	Giant platelet	true	Inferred relationship	Some	3

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
3286291015	MYH9 related disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5072666017	MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype and characteristics of congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease. Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. MYH9-RD is due to mutations in the MYH9 gene (22q13.1), encoding the heavy chain of the isoform A of the non-muscle myosin of class II (myosin-9). MYH9-RD is inherited in an autosomal dominant manner with sporadic de novo mutations also being observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4810861000172112	MYH9-gerelateerde trombocytopenie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4810871000172115	erfelijke trombocytopenie door mutatie in gen voor myosine-zwareketeneiwit 9	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)