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1197524007: Autosomal recessive 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
4696772017 Autosomal recessive amyotrophic lateral sclerosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696773010 Autosomal recessive amyotrophic lateral sclerosis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696774016 ALS1 AR - amyotrophic lateral sclerosis type 1 autosomal recessive en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4696775015 Autosomal recessive ALS (amyotrophic lateral sclerosis) type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4945384012 An autosomal recessive 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 recessive amyotrophic lateral sclerosis type 1 Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive amyotrophic lateral sclerosis type 1 Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Autosomal recessive amyotrophic lateral sclerosis type 1 Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Autosomal recessive amyotrophic lateral sclerosis type 1 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive amyotrophic lateral sclerosis type 1 Is a 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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