783618006: syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\...
• \Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Autosomal dominant hereditary motor neuron disease (disorder)\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)
• \Chronic disease\Chronic nervous system disorder (disorder)\Spinal muscular atrophy\Autosomal dominant hereditary spinal muscular atrophy (disorder)\Lower motor neuron syndrome with late-adult onset (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759523010	Lower motor neuron syndrome with late-adult onset (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759524016	Lower motor neuron syndrome with late-adult onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11496511000146118	LMND beginnend op late volwassen leeftijd	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12200571000146112	syndroom van 'lower motor neuron disease'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12200581000146114	syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12200591000146111	syndroom van tweedemotorneuronziekte beginnend op late volwassen leeftijd (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3759525015	A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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