771081007: Distal hereditary motor neuropathy type 7 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neck region\Larynx finding\Vocal cord finding\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of neck region\Larynx finding\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of neck region\Larynx finding\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of neck region\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of neck region\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of movement\Gross movement of body and limbs - finding\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of movement\Movement disorder\Nerve palsy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of movement\Movement disorder\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Finding of movement\Motor dysfunction\Paralysis\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Ear, nose and throat finding\Upper respiratory tract finding\Larynx finding\Vocal cord finding\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Ear, nose and throat finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Ear, nose and throat finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Ear, nose and throat finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Upper respiratory tract finding\Larynx finding\Vocal cord finding\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Upper respiratory tract finding\Larynx finding\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Upper respiratory tract finding\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Respiratory finding\Disorder of respiratory system (disorder)\Chronic disease of respiratory system\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Nerve palsy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Spinal muscular atrophy\Distal spinal muscular atrophy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of respiratory system (disorder)\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of body system\Disorder of respiratory system (disorder)\Chronic disease of respiratory system\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Ear, nose and throat disorder\Disorder of upper respiratory system (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Disorder of neck (disorder)\Disorder of the larynx (disorder)\Disorder of vocal cord\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Movement disorder\Nerve palsy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Movement disorder\Paralysis of larynx\Paralysis of glottis\Vocal cord paralysis\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Chronic disease\Chronic nervous system disorder\Spinal muscular atrophy\Distal spinal muscular atrophy\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
• \Disease\Chronic disease\Chronic disease of respiratory system\A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5404996017	A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404997014	A rare, slowly progressive genetic peripheral neuropathy characterised by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704240014	Distal hereditary motor neuropathy type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704241013	Distal spinal muscular atrophy with vocal cord paralysis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704242018	Distal hereditary motor neuropathy type 7 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1001821000172118	atrophie musculaire spinale distale avec paralysie des cordes vocales	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002071000172115	neuropathie motrice distale héréditaire type 7	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447731001000113	Neuropathie, distale motorische, hereditäre, Typ 7	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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