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

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

Status: current, Defined. 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	Active	Case insensitive	SNOMED CT core
4696773010	Autosomal recessive amyotrophic lateral sclerosis type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696774016	ALS1 AR - amyotrophic lateral sclerosis type 1 autosomal recessive	en	Synonym	Active	Case sensitive	SNOMED CT core
4696775015	Autosomal recessive ALS (amyotrophic lateral sclerosis) type 1	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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