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1204350002: Amyotrophic lateral sclerosis type 8 (disorder)


Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4953820019 ALS8 - amyotrophic lateral sclerosis type 8 en Synonym Active Case sensitive SNOMED CT core
4953821015 Amyotrophic lateral sclerosis type 8 en Synonym Active Case insensitive SNOMED CT core
4953822010 Amyotrophic lateral sclerosis type 8 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4953823017 A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Amyotrophic lateral sclerosis type 8 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Is a Degenerative disorder true Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Is a Hereditary disorder of nervous system true Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Is a Amyotrophic lateral sclerosis true Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Finding site Structure of nervous system true Inferred relationship Some 1
Amyotrophic lateral sclerosis type 8 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Amyotrophic lateral sclerosis type 8 Is a Chronic nervous system disorder true Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Clinical course Progressive 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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