FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

715415005: Richards-Rundle syndrome (disorder)


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
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
951431000172116 syndrome de Richards-Rundle fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian 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) Belgian module (core metadata concept)
871331000172118 ketoacidurie, intellectuele achterstand, ataxie, doofheidsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
874731000172116 syndroom van Richards-Rundle nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start