774147002: Charcot-Marie-Tooth disease type 2R (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2R (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2R (disorder)
• \Degenerative disorder\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2R (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2R (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2R (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2R (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease, type II (disorder)\Autosomal recessive Charcot-Marie-Tooth disease type 2\Charcot-Marie-Tooth disease type 2R (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3728134014	Charcot-Marie-Tooth disease type 2R	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728135010	Charcot-Marie-Tooth disease type 2R (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728136011	A rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728137019	A rare subtype of axonal hereditary motor and sensory neuropathy characterised by early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728134014	Charcot-Marie-Tooth disease type 2R	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728135010	Charcot-Marie-Tooth disease type 2R (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728136011	A rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3728137019	A rare subtype of axonal hereditary motor and sensory neuropathy characterised by early-onset axial hypotonia, generalised muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3452971001000113	Charcot-Marie-Tooth-Krankheit Typ 2R	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
945191000172114	CMT2R - Charcot-Marie-Tooth disease type 2R	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
972151000172111	maladie de Charcot-Marie-Tooth type 2R	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
945191000172114	CMT2R - Charcot-Marie-Tooth disease type 2R	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
972151000172111	maladie de Charcot-Marie-Tooth type 2R	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452971001000113	Charcot-Marie-Tooth-Krankheit Typ 2R	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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