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718555006: Juvenile amyotrophic lateral sclerosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401758014 Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401759018 Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterised by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312744015 Juvenile amyotrophic lateral sclerosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312745019 Juvenile amyotrophic lateral sclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312747010 JALS - juvenile amyotrophic lateral sclerosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
897031000172115 JALS - juvenile amyotrophic lateral sclerosis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
945611000172113 sclérose latérale amyotrophique juvénile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382991001000113 Amyotrophe Lateralsklerose, juvenile de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Is a Amyotrophic lateral sclerosis true Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Is a Hereditary disorder of nervous system true Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Is a Chronic nervous system disorder true Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Clinical course Progressive true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Caused by homozygous mutation in the gene encoding alsin ALS2 (2q33-q35). Is a True Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Inferred relationship Some
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. Is a True Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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