1172684002: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \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 2 due to DGAT2 mutation
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\affection dégénérative\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\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 2 due to DGAT2 mutation
• \Disease\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 2 due to DGAT2 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\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 2 due to DGAT2 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\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 2 due to DGAT2 mutation
• \Disease\maladie chronique\trouble neurologique chronique\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4635253012	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635254018	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635255017	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4635261019	A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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