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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
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
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 Only initial character case insensitive (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 Only initial character 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
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 Entire term case sensitive (core metadata concept) SNOMED CT core
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
3382991001000113 Amyotrophe Lateralsklerose, juvenile de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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 Is a Amyotrophic lateral sclerosis true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile amyotrophic lateral sclerosis Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile amyotrophic lateral sclerosis Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile amyotrophic lateral sclerosis Is a Chronic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile amyotrophic lateral sclerosis Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile amyotrophic lateral sclerosis Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Juvenile amyotrophic lateral sclerosis type 2 (disorder) Is a True Juvenile amyotrophic lateral sclerosis Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile amyotrophic lateral sclerosis type 5 Is a True Juvenile amyotrophic lateral sclerosis Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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