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1197523001: Autosomal dominant amyotrophic lateral sclerosis type 1 (disorder)


Status: current, 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
4696763013 Autosomal dominant amyotrophic lateral sclerosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696764019 Autosomal dominant ALS (amyotrophic lateral sclerosis) type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4696766017 Autosomal dominant amyotrophic lateral sclerosis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696771012 ALS1 AD - amyotrophic lateral sclerosis type 1 autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4945383018 An autosomal dominant hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. 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
Autosomal dominant amyotrophic lateral sclerosis type 1 est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant amyotrophic lateral sclerosis type 1 évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal dominant amyotrophic lateral sclerosis type 1 localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 1
Autosomal dominant amyotrophic lateral sclerosis type 1 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant amyotrophic lateral sclerosis type 1 est un(e) (attribut) Amyotrophic lateral sclerosis type 1 true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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