763400005: X-linked Charcot-Marie-Tooth disease type 4 (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\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 4
• \Sex-linked hereditary disorder\X-linked hereditary disease\...
• \X-linked recessive hereditary disease\X-linked Charcot-Marie-Tooth disease type 4
• \X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 4
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 4
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 4
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 4
• \Congenital disease\X-linked hereditary motor and sensory neuropathy\X-linked Charcot-Marie-Tooth disease type 4

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642048013	Cowchock syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3642049017	X-linked Charcot-Marie-Tooth disease type 4	en	Synonym	Active	Case sensitive	SNOMED CT core
3642050017	X-linked Charcot-Marie-Tooth disease type 4 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3642069010	A rare genetic axonal peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the neonatal to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group) as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. The disease is caused by mutation in the AIFM1 gene on chromosome Xq26.	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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