763135001: Charcot-Marie-Tooth disease type 4E (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 4\Charcot-Marie-Tooth disease type 4E (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4E (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4E (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 4\Charcot-Marie-Tooth disease type 4E (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 4\Charcot-Marie-Tooth disease type 4E (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 4\Charcot-Marie-Tooth disease type 4E (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3637975014	Charcot-Marie-Tooth disease type 4E (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637976010	Charcot-Marie-Tooth disease type 4E	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637977018	Autosomal recessive congenital hypomyelinating neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403954014	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403955010	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterised by a Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637975014	Charcot-Marie-Tooth disease type 4E (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637976010	Charcot-Marie-Tooth disease type 4E	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637977018	Autosomal recessive congenital hypomyelinating neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637978011	A congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 with characteristics of Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical Charcot-Marie-Tooth phenotype, for example distal muscle weakness and atrophy, sensory loss, and foot deformity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403954014	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403955010	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterised by a Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441571001000112	Charcot-Marie-Tooth-Krankheit Typ 4E	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
883351000172118	CMT4E - Charcot-Marie-Tooth disease type 4E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990321000172113	maladie de Charcot-Marie-Tooth type 4E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
883351000172118	CMT4E - Charcot-Marie-Tooth disease type 4E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990321000172113	maladie de Charcot-Marie-Tooth type 4E	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3441571001000112	Charcot-Marie-Tooth-Krankheit Typ 4E	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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