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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

0 descendants.

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

Reference Sets

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

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