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1204334005: Amyotrophic lateral sclerosis type 6 (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\Disease\...
    • \Genetic disease\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 FUS gene on chromosome 16p11.
    • \Degenerative disorder\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 FUS gene on chromosome 16p11.
    • \Chronic disease\Chronic nervous system disorder\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 FUS gene on chromosome 16p11.

Status: current, Not 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
4953517015 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 FUS gene on chromosome 16p11. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4953512014 Amyotrophic lateral sclerosis type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4953513016 ALS6 - amyotrophic lateral sclerosis type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4953514010 Amyotrophic lateral sclerosis type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7742371000241117 SLA (sclérose latérale amyotrophique) de type 6 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7742381000241115 sclérose latérale amyotrophique de type 6 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 FUS gene on chromosome 16p11. Is a Chronic nervous system disorder true Inferred relationship Some
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 FUS gene on chromosome 16p11. Is a Degenerative disorder true Inferred relationship Some
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 FUS gene on chromosome 16p11. Is a Genetic disease true Inferred relationship Some
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 FUS gene on chromosome 16p11. Is a Amyotrophic lateral sclerosis true Inferred relationship Some
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 FUS gene on chromosome 16p11. Clinical course Progressive true Inferred relationship Some 2
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 FUS gene on chromosome 16p11. Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
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 FUS gene on chromosome 16p11. Associated morphology Degenerative abnormality true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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