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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Sensorineural hearing loss false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Interprets Hearing true Inferred relationship Some 4
Spastic paraplegia, nephritis, deafness syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Spastic paraplegia, nephritis, deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Spastic paraplegia, nephritis, deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Ear structure true Inferred relationship Some 6
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 7
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 9
Spastic paraplegia, nephritis, deafness syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Some 8
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Some 8
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Cerebellar structure false Inferred relationship Some 8
Spastic paraplegia, nephritis, deafness syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Some 1
Spastic paraplegia, nephritis, deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Associated morphology Degenerative abnormality false Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Disorder of ear false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Chronic disease of genitourinary system true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Chronic disease of ear false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Decreased hearing (finding) true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Spastic paraplegia, nephritis, deafness syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 4
Spastic paraplegia, nephritis, deafness syndrome (disorder) Interprets Movement true Inferred relationship Some 9
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 3
Spastic paraplegia, nephritis, deafness syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 8
Spastic paraplegia, nephritis, deafness syndrome (disorder) Interprets Movement observable true Inferred relationship Some 2
Spastic paraplegia, nephritis, deafness syndrome (disorder) Has interpretation Absent true Inferred relationship Some 2
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Chronic deafness true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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