1204350002: amyotrofische laterale sclerose type 8 (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Amyotrophic lateral sclerosis type 8

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Amyotrophic lateral sclerosis type 8

\Degenerative disorder\Amyotrophic lateral sclerosis type 8

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Amyotrophic lateral sclerosis type 8
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Amyotrophic lateral sclerosis type 8
\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Amyotrophic lateral sclerosis type 8
\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Amyotrophic lateral sclerosis\Amyotrophic lateral sclerosis type 8

\Chronic disease\Chronic nervous system disorder (disorder)\Amyotrophic lateral sclerosis type 8

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

4953820019 ALS8 - amyotrophic lateral sclerosis type 8 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4953821015 Amyotrophic lateral sclerosis type 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4953822010 Amyotrophic lateral sclerosis type 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

13607801000146113 amyotrofische laterale sclerose type 8 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13607811000146110 ALS type 8 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13607821000146117 amyotrofische laterale sclerose type 8 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4953823017 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 VAPB gene on chromosome 20q13. 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 8	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 8	Is a	Degenerative disorder	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 8	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 8	Is a	Amyotrophic lateral sclerosis	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 8	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Amyotrophic lateral sclerosis type 8	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Amyotrophic lateral sclerosis type 8	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Amyotrophic lateral sclerosis type 8	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

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This concept is not in any reference sets