782826009: Charcot-Marie-Tooth disease type 2P (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\Charcot-Marie-Tooth disease type 2P
• \Autosomal hereditary disorder\Charcot-Marie-Tooth disease type 2P
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II\Charcot-Marie-Tooth disease type 2P
• \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\Charcot-Marie-Tooth disease type 2P
• \Disorder of body system\Neurological disorder\Neuropathy\Charcot-Marie-Tooth disease, type II\Charcot-Marie-Tooth disease type 2P
• \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\Charcot-Marie-Tooth disease type 2P
• \Disorder of body system\Neurological disorder\Chronic nervous system disorder\Charcot-Marie-Tooth disease type 2P
• \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\Charcot-Marie-Tooth disease type 2P
• \Chronic disease\Chronic nervous system disorder\Charcot-Marie-Tooth disease type 2P

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756088014	Charcot-Marie-Tooth disease type 2P (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3756089018	Charcot-Marie-Tooth disease type 2P	en	Synonym	Active	Case sensitive	SNOMED CT core
3756090010	CMT2P - Charcot-Marie-Tooth disease type 2P	en	Synonym	Active	Case sensitive	SNOMED CT core
3756091014	A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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