717013009: Autosomal dominant Charcot-Marie-Tooth disease type 2I (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2I (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2I (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2I (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 II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308184016	Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308185015	Autosomal dominant Charcot-Marie-Tooth disease type 2I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401453016	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401454010	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by a late onset with severe sensory loss (paraesthesia and hypoaesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308184016	Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308185015	Autosomal dominant Charcot-Marie-Tooth disease type 2I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308186019	A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401453016	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401454010	A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by a late onset with severe sensory loss (paraesthesia and hypoaesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3422491001000119	Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2I	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
894111000172118	CMT2I - Charcot-Marie-Tooth disease type 2I	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
993021000172116	maladie de Charcot-Marie-Tooth autosomique dominante type 2I	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
894111000172118	CMT2I - Charcot-Marie-Tooth disease type 2I	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
993021000172116	maladie de Charcot-Marie-Tooth autosomique dominante type 2I	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422491001000119	Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2I	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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