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

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

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
4634476017	Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4634477014	MME-related autosomal dominant Charcot Marie Tooth disease type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634478016	Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4634479012	MME-related autosomal dominant hereditary motor and sensory neuropathy type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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