715798007: Charcot-Marie-Tooth disease type 4D (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 4\Charcot-Marie-Tooth disease type 4D
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4D
• \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 4\Charcot-Marie-Tooth disease type 4D
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4D
• \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 4\Charcot-Marie-Tooth disease type 4D
• \Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4D

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303743013	Charcot-Marie-Tooth disease type 4D (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3303748016	Charcot-Marie-Tooth disease type 4D	en	Synonym	Active	Case sensitive	SNOMED CT core
3303749012	Hereditary motor and sensory neuropathy Lom type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303750012	Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4, a demyelinating hereditary motor and sensory neuropathy. Main features described as gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade and sensorineural deafness usually manifesting in the second or third decade of life. CMT4D was first reported in the Bulgarian Romani community of Lom and to date, has mainly been associated with the Roma population. CMT4D is caused by a single ancestral mutation (p.R148X) in the NDRG1 gene (8q24) coding for the NDRG1 protein that has a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Transmission is autosomal recessive.	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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