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715415005: Richards-Rundle syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302520011 Richards-Rundle syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3302521010 Richards-Rundle syndrome en Synonym Active Case sensitive SNOMED CT core
3302522015 An extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. en Definition Active Case sensitive SNOMED CT core
3302523013 An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Richards-Rundle syndrome Finding site Spinal cord structure true Inferred relationship Some 2
Richards-Rundle syndrome Finding site Cerebellar structure true Inferred relationship Some 3
Richards-Rundle syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 2
Richards-Rundle syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 3
Richards-Rundle syndrome Is a Hereditary cerebellar degeneration false Inferred relationship Some
Richards-Rundle syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Richards-Rundle syndrome Is a Spinocerebellar ataxia true Inferred relationship Some
Richards-Rundle syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Richards-Rundle syndrome Finding site Structure of auditory system true Inferred relationship Some 1
Richards-Rundle syndrome Associated morphology Degeneration false Inferred relationship Some 3
Richards-Rundle syndrome Finding site Spinal cord structure false Inferred relationship Some 3
Richards-Rundle syndrome Associated morphology Degeneration false Inferred relationship Some 4
Richards-Rundle syndrome Finding site Cerebellar structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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