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717266001: Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3308894011 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3308895012 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome en Synonym Active Case insensitive SNOMED CT core
3308896013 SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome en Synonym Active Case sensitive SNOMED CT core
3308897016 This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. en Definition Active Case sensitive SNOMED CT core
3777400017 This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibers on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Clinical course Progressive true Inferred relationship Some 5
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Finding site Structure of extraocular muscle true Inferred relationship Some 4
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Myoneural disorder true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Interprets Movement true Inferred relationship Some 7
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Interprets Movement observable true Inferred relationship Some 6
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Has interpretation Absent true Inferred relationship Some 6
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Due to Mitochondrial cytopathy true Inferred relationship Some 3
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Dysarthria false Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Progressive external ophthalmoplegia true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Sensory ataxia true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Peripheral neuropathy due to metabolic disorder true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Occurrence Adulthood true Inferred relationship Some 1
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Finding site Peripheral nerve structure true Inferred relationship Some 2
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Finding site Eye region structure false Inferred relationship Some 4
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Hereditary ataxia true Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a Acquired dysarthria true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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