718555006: Juvenile amyotrophic lateral sclerosis (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Juvenile amyotrophic lateral sclerosis
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Juvenile amyotrophic lateral sclerosis
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Juvenile amyotrophic lateral sclerosis
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Juvenile amyotrophic lateral sclerosis
• \Disorder of body system\Neurological disorder\Chronic nervous system disorder\Juvenile amyotrophic lateral sclerosis
• \Disorder of body system\Neurological disorder\Motor neurone disease\Amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis
• \Chronic disease\Chronic nervous system disorder\Juvenile amyotrophic lateral sclerosis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3312744015	Juvenile amyotrophic lateral sclerosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3312745019	Juvenile amyotrophic lateral sclerosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3312747010	JALS - juvenile amyotrophic lateral sclerosis	en	Synonym	Active	Case sensitive	SNOMED CT core
3312746018	A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2).	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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