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1201961000: Juvenile amyotrophic lateral sclerosis type 5 (disorder)


Status: current, Primitive. 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 Active Case sensitive SNOMED CT core
4945898011 Juvenile amyotrophic lateral sclerosis type 5 en Synonym Active Case insensitive SNOMED CT core
4945899015 Juvenile amyotrophic lateral sclerosis type 5 (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 true Inferred relationship Some
Juvenile amyotrophic lateral sclerosis type 5 Clinical course Progressive true Inferred relationship Some 1
Juvenile amyotrophic lateral sclerosis type 5 Finding site Structure of nervous system true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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