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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) est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) affection de l'oreille false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) maladie chronique de l'appareil génito-urinaire true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) maladie chronique de l'oreille true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 5
Spastic paraplegia, nephritis, deafness syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Decreased hearing true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 2
Spastic paraplegia, nephritis, deafness syndrome (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 4
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Spastic paraplegia, nephritis, deafness syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 6
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 7
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 9
Spastic paraplegia, nephritis, deafness syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 8
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 8
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 8
Spastic paraplegia, nephritis, deafness syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Spastic paraplegia, nephritis, deafness syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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