1187618009: Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder)

• SNOMED CT Concept\Clinical finding\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 2V
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2V
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\Autosomal dominant Charcot-Marie-Tooth disease type 2V
• \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 2V
• \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 2V
• \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 2V
• \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 2V

Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674379018	Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4674380015	Autosomal dominant Charcot-Marie-Tooth disease type 2V	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674381016	Hereditary adult onset painful axonal polyneuropathy	en	Synonym	Active	Case insensitive	SNOMED CT core
4674382011	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674383018	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674387017	A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.	en	Definition	Active	Case sensitive	SNOMED CT core
4674388010	A rare axonal hereditary motor and sensory neuropathy characterised by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paraesthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.	en	Definition	Active	Case sensitive	SNOMED CT core

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Reference Sets

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