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733089005: Spastic paraplegia, nephritis, deafness syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498725011 Spastic paraplegia, nephritis, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498726012 Spastic paraplegia, nephritis, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4673148019 Fitzsimmons Walson Mellor syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403732015 Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403733013 Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterised by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498725011 Spastic paraplegia, nephritis, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498726012 Spastic paraplegia, nephritis, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498727015 Fitzsimmons Watson Mellor syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4673148019 Fitzsimmons Walson Mellor syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499968010 Syndrome with characteristics of variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. It has been described in six members of a family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403732015 Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403733013 Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterised by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3414431001000117 Spastische Paraplegie-Nephritis-Schwerhörigkeit-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414431001000117 Spastische Paraplegie-Nephritis-Schwerhörigkeit-Syndrom 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
Spastic paraplegia, nephritis, deafness syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Complicated hereditary spastic paraplegia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, nephritis, deafness syndrome Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, nephritis, deafness syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, nephritis, deafness syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, nephritis, deafness syndrome Finding site Ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, nephritis, deafness syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, nephritis, deafness syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, nephritis, deafness syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, nephritis, deafness syndrome Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, nephritis, deafness syndrome Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, nephritis, deafness syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, nephritis, deafness syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, nephritis, deafness syndrome Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, nephritis, deafness syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, nephritis, deafness syndrome Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, nephritis, deafness syndrome Is a Disorder of ear false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, nephritis, deafness syndrome Is a Chronic disease of genitourinary system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Chronic disease of ear (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, nephritis, deafness syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, nephritis, deafness syndrome Is a Decreased hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, nephritis, deafness syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, nephritis, deafness syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, nephritis, deafness syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, nephritis, deafness syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, nephritis, deafness syndrome Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, nephritis, deafness syndrome Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, nephritis, deafness syndrome Is a Chronic deafness true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, nephritis, deafness syndrome Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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