717008005: maladie de Charcot-Marie-Tooth autosomique dominante type 2B (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\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 2B (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)
• \affection dégénérative\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\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 2B (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\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 2B (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\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 2B (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
3308169013	Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308170014	Autosomal dominant Charcot-Marie-Tooth disease type 2B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
750131000241117	maladie de Charcot-Marie-Tooth autosomique dominante type 2B (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
934261000172113	maladie de Charcot-Marie-Tooth autosomique dominante type 2B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
966211000172114	CMT2B - Charcot-Marie-Tooth disease type 2B	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3308171013	A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start