1201961000: Juvenile amyotrophic lateral sclerosis type 5 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Juvenile amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis type 5
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Juvenile amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis type 5
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Juvenile amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis type 5
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Juvenile amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis type 5
• \Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Juvenile amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis type 5
• \Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis type 5
• \Chronic disease\Chronic nervous system disorder (disorder)\Juvenile amyotrophic lateral sclerosis\Juvenile amyotrophic lateral sclerosis type 5

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4945897018	ALS5 - amyotrophic lateral sclerosis type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4945898011	Juvenile amyotrophic lateral sclerosis type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945899015	Juvenile amyotrophic lateral sclerosis type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945900013	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. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4945897018	ALS5 - amyotrophic lateral sclerosis type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4945898011	Juvenile amyotrophic lateral sclerosis type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945899015	Juvenile amyotrophic lateral sclerosis type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945900013	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. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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