773414009: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (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\Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
• \Disorder of body system\Neurological disorder\Chronic nervous system disorder\Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
• \Chronic disease\Chronic nervous system disorder\Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723459012	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723460019	RI-CMT type C - autosomal recessive intermediate Charcot-Marie-Tooth disease type C	en	Synonym	Active	Case sensitive	SNOMED CT core
3723461015	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723462010	A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.	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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