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1201961000: Juvenile amyotrophic lateral sclerosis type 5 (disorder)


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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Juvenile amyotrophic lateral sclerosis type 5 Is a Juvenile amyotrophic lateral sclerosis (disorder) true Inferred relationship Some
Juvenile amyotrophic lateral sclerosis type 5 Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Juvenile amyotrophic lateral sclerosis type 5 Finding site Structure of nervous system (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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