763136000: Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \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, deafness, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\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, deafness, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\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, deafness, intellectual disability syndrome
• \Disease\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, deafness, intellectual disability syndrome
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome

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
3637979015	Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637980017	Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637981018	Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637982013	Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403956011	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403957019	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637979015	Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637980017	Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637981018	Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3637982013	Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637983015	A rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibres on sural nerve biopsy is equally characteristic of the disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3637984014	A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403956011	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403957019	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3436041001000119	Charcot-Marie-Tooth-Krankheit-Schwerhörigkeit-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949041000172116	syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
987391000172110	neuropathie héréditaire avec surdité, déficience intellectuelle et absence de fibres sensitives myélinisées de gros calibre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949041000172116	syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
987391000172110	neuropathie héréditaire avec surdité, déficience intellectuelle et absence de fibres sensitives myélinisées de gros calibre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436041001000119	Charcot-Marie-Tooth-Krankheit-Schwerhörigkeit-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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