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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3498726012 Spastic paraplegia, nephritis, deafness syndrome en Synonym Active Case insensitive SNOMED CT core
4673148019 Fitzsimmons Walson Mellor syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

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