719979008: Charcot-Marie-Tooth disease type ID (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\Charcot-Marie-Tooth disease type 1D
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Charcot-Marie-Tooth disease, type I\Charcot-Marie-Tooth disease type 1D
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\Charcot-Marie-Tooth disease type 1D
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\Charcot-Marie-Tooth disease type 1D
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type I\Charcot-Marie-Tooth disease type 1D

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318693012	Charcot-Marie-Tooth disease type ID (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318694018	Charcot-Marie-Tooth disease type ID	en	Synonym	Active	Case sensitive	SNOMED CT core
3318695017	Charcot-Marie-Tooth disease type 1D	en	Synonym	Active	Case sensitive	SNOMED CT core
3318696016	A form of Charcot-Marie-Tooth disease type 1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood). Usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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