712922002: Myosin heavy chain 9 non muscle related disease (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\MYH9 related disease
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Finding of blood, lymphatics and immune system\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Disease\Genetic disease\MYH9 related disease
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\MYH9 related disease
• \Disease\Congenital disease\Congenital thrombocytopenia\MYH9 related disease

Status: current, Primitive. Date: 31-Jan 2016. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start