715796006: Charcot-Marie-Tooth disease type 4A (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 4A
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4A
• \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 4A
• \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 4A
• \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 4A
• \Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4A

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303737011	Charcot-Marie-Tooth disease type 4A (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3303738018	Charcot-Marie-Tooth disease type 4A	en	Synonym	Active	Case sensitive	SNOMED CT core
3303747014	Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Transmitted in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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