765047006: SURF1, cytochrome c oxidase assembly factor related 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\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related 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\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related 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\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related 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\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4
• \Congenital disease\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related 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
3656361011	SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3656362016	Charcot-Marie-Tooth disease type 4K	en	Synonym	Active	Case sensitive	SNOMED CT core
3656363014	SURF1-related Charcot-Marie-Tooth disease type 4	en	Synonym	Active	Case sensitive	SNOMED CT core
3656364015	SURF1-related severe demyelinating Charcot-Marie-Tooth disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3656365019	SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4	en	Synonym	Active	Case sensitive	SNOMED CT core
3656176011	A subtype of Charcot-Marie-Tooth disease type 4 with characteristics of childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).	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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