763460007: X-linked Charcot-Marie-Tooth disease type 5 (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)\X-linked hereditary motor and sensory neuropathy\A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.
• \Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\...
• \X-linked recessive hereditary disease\A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.
• \X-linked hereditary motor and sensory neuropathy\A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.
• \Disorder of foetus and/or newborn\Congenital disease\X-linked hereditary motor and sensory neuropathy\A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy\A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy\A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.
• \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)\X-linked hereditary motor and sensory neuropathy\A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.

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
3642524012	X-linked Charcot-Marie-Tooth disease type 5 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642525013	X-linked Charcot-Marie-Tooth disease type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404078012	A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404079016	A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642524012	X-linked Charcot-Marie-Tooth disease type 5 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642525013	X-linked Charcot-Marie-Tooth disease type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642527017	A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infancy to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral profound prelingual sensorineural hearing loss and progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404078012	A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404079016	A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3445351001000113	Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 5	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
937371000172115	CMT5X - Charcot-Marie-Tooth disease type 5, X-linked	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948521000172111	maladie de Charcot-Marie-Tooth liée à l'X type 5	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
937371000172115	CMT5X - Charcot-Marie-Tooth disease type 5, X-linked	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948521000172111	maladie de Charcot-Marie-Tooth liée à l'X type 5	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445351001000113	Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 5	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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