765047006: SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)
• \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)
• \Disorder of foetus and/or newborn\Congenital disease\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Charcot-Marie-Tooth disease type 4\SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656362016	Charcot-Marie-Tooth disease type 4K	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656363014	SURF1-related Charcot-Marie-Tooth disease type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656364015	SURF1-related severe demyelinating Charcot-Marie-Tooth disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656365019	SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404460011	A subtype of Charcot-Marie-Tooth disease type 4 characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404461010	A subtype of Charcot-Marie-Tooth disease type 4 characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656361011	SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656362016	Charcot-Marie-Tooth disease type 4K	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656363014	SURF1-related Charcot-Marie-Tooth disease type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656364015	SURF1-related severe demyelinating Charcot-Marie-Tooth disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3656365019	SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404460011	A subtype of Charcot-Marie-Tooth disease type 4 characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404461010	A subtype of Charcot-Marie-Tooth disease type 4 characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3455231001000111	SURF1-abhängige Charcot-Marie-Tooth-Krankheit Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3455231001000111	SURF1-abhängige Charcot-Marie-Tooth-Krankheit Typ 4	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Component annotation with string value reference set (foundation metadata concept)

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