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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318694018	Charcot-Marie-Tooth disease type ID	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318695017	Charcot-Marie-Tooth disease type 1D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402290019	Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318693012	Charcot-Marie-Tooth disease type ID (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318694018	Charcot-Marie-Tooth disease type ID	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318695017	Charcot-Marie-Tooth disease type 1D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402290019	Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428631001000118	Charcot-Marie-Tooth-Krankheit Typ 1D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
899831000172118	CMT1D - Charcot-Marie-Tooth disease type 1D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015741000172117	maladie de Charcot-Marie-Tooth type 1D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
899831000172118	CMT1D - Charcot-Marie-Tooth disease type 1D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1015741000172117	maladie de Charcot-Marie-Tooth type 1D	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428631001000118	Charcot-Marie-Tooth-Krankheit Typ 1D	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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