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715415005: syndrome de Richards-Rundle (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3302521010 Richards-Rundle syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
747481000241113 syndrome de Richards-Rundle (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
951431000172116 syndrome de Richards-Rundle fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
958631000172111 syndrome de cétoacidurie, déficience intellectuelle, ataxie, surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Richards-Rundle syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 2
Richards-Rundle syndrome (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 3
Richards-Rundle syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Richards-Rundle syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 3
Richards-Rundle syndrome (disorder) est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Richards-Rundle syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Richards-Rundle syndrome (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Richards-Rundle syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Richards-Rundle syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 1
Richards-Rundle syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Richards-Rundle syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 3
Richards-Rundle syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 4
Richards-Rundle syndrome (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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