1172585006: Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \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\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Charcot-Marie-Tooth disease type 2\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Degenerative disorder\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \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\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Charcot-Marie-Tooth disease, type II\Autosomal dominant Charcot-Marie-Tooth disease type 2\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \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\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \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\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Chronic disease\Chronic nervous system disorder\MME-related autosomal dominant Charcot Marie Tooth disease type 2
• \Disease\Disorder of soft tissue\Peripheral neuropathy\MME-related autosomal dominant Charcot Marie Tooth disease type 2

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634476017	Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4634477014	MME-related autosomal dominant Charcot Marie Tooth disease type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
4634478016	Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4634479012	MME-related autosomal dominant hereditary motor and sensory neuropathy type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
4634480010	A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start