717964007: Juvenile primary lateral sclerosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Primary lateral sclerosis\Juvenile primary lateral sclerosis
• \Central nervous system finding\Disorder of the central nervous system\Upper motor neuron disease\Primary lateral sclerosis\Juvenile primary lateral sclerosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Juvenile primary lateral sclerosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Juvenile primary lateral sclerosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Juvenile primary lateral sclerosis
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Juvenile primary lateral sclerosis
• \Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Upper motor neuron disease\Primary lateral sclerosis\Juvenile primary lateral sclerosis
• \Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Juvenile primary lateral sclerosis
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Upper motor neuron disease\Primary lateral sclerosis\Juvenile primary lateral sclerosis

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324459010	Juvenile primary lateral sclerosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324460017	Juvenile primary lateral sclerosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3330220017	A very rare motor neuron disease with characteristics of progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence and subsequently, loss of motor speech production. Affected patients are usually normal at birth and have normal early development. During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. Other signs include clumsiness, muscle weakness and balance difficulties. Mutations in the ALS2 gene (2q33-q35) encoding alsin, a protein that is abundant in motor neurons, and less commonly mutations in the ERLIN2 gene (8p11.2) have been reported. Inherited in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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