773393001: maladie de Charcot-Marie-Tooth autosomique dominante type 2Q (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\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \affection dégénérative\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \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\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \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\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \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\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \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\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q
• \maladie chronique\trouble neurologique chronique\maladie de Charcot-Marie-Tooth autosomique dominante type 2Q

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1010121000172116	maladie de Charcot-Marie-Tooth autosomique dominante type 2Q	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723359013	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723360015	Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
771281000241115	maladie de Charcot-Marie-Tooth autosomique dominante type 2Q (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
909861000172115	CMT2Q - Charcot-Marie-Tooth disease type 2Q	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3723361016	A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.	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