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785302009: Adult-onset autosomal recessive cerebellar ataxia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3766843012 Adult-onset autosomal recessive cerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766844018 SCAR10 - autosomal recessive spinocerebellar ataxia type 10 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3766845017 Adult-onset autosomal recessive cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766846016 Autosomal recessive spinocerebellar ataxia type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766847013 A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22. 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
Adult-onset autosomal recessive cerebellar ataxia (disorder) survenue (attribut) Adulthood (qualifier value) true Inferred relationship Some 1
Adult-onset autosomal recessive cerebellar ataxia (disorder) survenue (attribut) Adulthood (qualifier value) true Inferred relationship Some 2
Adult-onset autosomal recessive cerebellar ataxia (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 2
Adult-onset autosomal recessive cerebellar ataxia (disorder) est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Adult-onset autosomal recessive cerebellar ataxia (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Adult-onset autosomal recessive cerebellar ataxia (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 2
Adult-onset autosomal recessive cerebellar ataxia (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Adult-onset autosomal recessive cerebellar ataxia (disorder) est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Adult-onset autosomal recessive cerebellar ataxia (disorder) localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 1
Adult-onset autosomal recessive cerebellar ataxia (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 3
Adult-onset autosomal recessive cerebellar ataxia (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Adult-onset autosomal recessive cerebellar ataxia (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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