1204334005: amyotrofische laterale sclerose type 6 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Amyotrophic lateral sclerosis type 6

\Degenerative disorder\Amyotrophic lateral sclerosis type 6

\Disorder of body system\Disorder of nervous system (disorder)\...

\Chronic nervous system disorder (disorder)\Amyotrophic lateral sclerosis type 6

\Motor neuron disease\Amyotrophic lateral sclerosis\Amyotrophic lateral sclerosis type 6

\Chronic disease\Chronic nervous system disorder (disorder)\Amyotrophic lateral sclerosis type 6

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

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 Only initial character case insensitive (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

13604201000146115 ALS type 6 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13604211000146118 amyotrofische laterale sclerose type 6 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13604221000146111 amyotrofische laterale sclerose type 6 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amyotrophic lateral sclerosis type 6	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 6	Is a	Degenerative disorder	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 6	Is a	Genetic disease	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 6	Is a	Amyotrophic lateral sclerosis	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 6	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Amyotrophic lateral sclerosis type 6	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Amyotrophic lateral sclerosis type 6	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets