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723306004: Facial onset sensory and motor neuronopathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3423993012 Facial onset sensory and motor neuronopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3423994018 Facial onset sensory and motor neuronopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3423995017 FOSMN syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423996016 FOSMN (facial onset sensory and motor neuronopathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423997013 Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423998015 Facial onset sensory and motor neuronopathy is characterized initially by paresthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. 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
Facial onset sensory and motor neuronopathy syndrome (disorder) Is a Degenerative disease of the central nervous system false Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Facial onset sensory and motor neuronopathy syndrome (disorder) Finding site Structure of central nervous system (body structure) true Inferred relationship Some 1
Facial onset sensory and motor neuronopathy syndrome (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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