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783618006: Lower motor neuron syndrome with late-adult onset (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
3759523010 Lower motor neuron syndrome with late-adult onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759524016 Lower motor neuron syndrome with late-adult onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759525015 A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4360791000052116 nedre motorneuronsyndrom med debut sent i vuxen ålder sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lower motor neuron syndrome with late-adult onset (disorder) Is a Spinal muscular atrophy true Inferred relationship Some
Lower motor neuron syndrome with late-adult onset (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Lower motor neuron syndrome with late-adult onset (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Lower motor neuron syndrome with late-adult onset (disorder) Occurrence Adulthood true Inferred relationship Some 1
Lower motor neuron syndrome with late-adult onset (disorder) Is a Chronic nervous system disorder (disorder) true Inferred relationship Some
Lower motor neuron syndrome with late-adult onset (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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