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

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
5400773015 MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400774014 MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterised by 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 (ESRD). 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3286291015 MYH9 related disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 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 Only initial character 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
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
5400773015 MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400774014 MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterised by 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 (ESRD). 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451051001000110 MYH9-assoziierte Krankheiten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6931801000241116 maladie liée à MYH9 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6931821000241114 maladie de la chaîne lourde de la myosine non musculaire 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6931801000241116 maladie liée à MYH9 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6931821000241114 maladie de la chaîne lourde de la myosine non musculaire 9 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451051001000110 MYH9-assoziierte Krankheiten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Is a Hereditary thrombocytopenic disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Has definitional manifestation Platelet count below reference range (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 1
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 2
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 2
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Is a Congenital thrombocytopaenia true Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by 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 (ESRD). 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. Associated morphology Giant platelet (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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