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

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Genetic disease\Hereditary disease\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\Degenerative disorder\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Chronic disease\Chronic nervous system disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

Status: current, Primitive. 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	Active	Initial character case insensitive	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	Initial character case insensitive	SNOMED CT core
4635255017	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

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