1197524007: Autosomal recessive amyotrophic lateral sclerosis type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Amyotrophic lateral sclerosis type 1\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.
• \Autosomal hereditary disorder\Amyotrophic lateral sclerosis type 1\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.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
• \Degenerative disorder\Amyotrophic lateral sclerosis type 1\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.
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Amyotrophic lateral sclerosis type 1\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.
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Amyotrophic lateral sclerosis type 1\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.
• \Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Amyotrophic lateral sclerosis type 1\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.
• \Disorder of body system\Disease of nervous system (disorder)\Motor neuron disease\Amyotrophic lateral sclerosis\Amyotrophic lateral sclerosis type 1\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.
• \Chronic disease\Chronic nervous system disorder (disorder)\Amyotrophic lateral sclerosis type 1\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.

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
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

Expanded Value Set

This concept is not in any reference sets

Back to Start