763345008: Charcot-Marie-Tooth disease type 4B3 (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 4B3
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4B3
• \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 4B3
• \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 4B3
• \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 4B3
• \Congenital disease\Charcot-Marie-Tooth disease type 4\Charcot-Marie-Tooth disease type 4B3

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638628013	Charcot-Marie-Tooth disease type 4B3	en	Synonym	Active	Case sensitive	SNOMED CT core
3638629017	Charcot-Marie-Tooth disease with focally folded myelin	en	Synonym	Active	Case sensitive	SNOMED CT core
3638630010	Charcot-Marie-Tooth disease type 4B3 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3638631014	A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.	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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