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86044005: Amyotrophic lateral sclerosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
142653015 Amyotrophic lateral sclerosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
142654014 Bulbar motor neuron disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
142655010 Lou Gehrig's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
506902010 ALS - Amyotrophic lateral sclerosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
828225019 Amyotrophic lateral sclerosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
949831000195113 sclerosi laterale amiotrofica it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
224631000172119 sclérose latérale amyotrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
849371000241111 SLA - sclérose latérale amyotrophique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
849381000241113 maladie de Lou Gehrig fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428671001000115 Amyotrophe Lateralsklerose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

24 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Amyotrophic lateral sclerosis Is a Motor neuron disease true Inferred relationship Some
Amyotrophic lateral sclerosis Finding site Motor neuron false Inferred relationship Some
Amyotrophic lateral sclerosis Associated morphology dégénérescence false Inferred relationship Some 2
Amyotrophic lateral sclerosis Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Amyotrophic lateral sclerosis with dementia Is a True Amyotrophic lateral sclerosis Inferred relationship Some
Family history of amyotrophic lateral sclerosis (situation) Associated finding False Amyotrophic lateral sclerosis Inferred relationship Some 1
Family history of amyotrophic lateral sclerosis (situation) Associated finding True Amyotrophic lateral sclerosis Inferred relationship Some 1
Family history of amyotrophic lateral sclerosis (situation) Associated finding False Amyotrophic lateral sclerosis Inferred relationship Some 1
Restrictive lung disease due to amyotrophic lateral sclerosis (disorder) Due to True Amyotrophic lateral sclerosis Inferred relationship Some 1
Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. Is a True Amyotrophic lateral sclerosis Inferred relationship Some
Amyotrophic lateral sclerosis plus syndrome (disorder) Is a True Amyotrophic lateral sclerosis Inferred relationship Some
A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. Is a True Amyotrophic lateral sclerosis Inferred relationship Some
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. Is a True Amyotrophic lateral sclerosis 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. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. Is a True Amyotrophic lateral sclerosis 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. Associated with the ALS3 gene on the cytogenetic location 18q21. Is a True Amyotrophic lateral sclerosis 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 True Amyotrophic lateral sclerosis 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. Cytogenetic location is 20p13. Is a True Amyotrophic lateral sclerosis 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 VAPB gene on chromosome 20q13. Is a True Amyotrophic lateral sclerosis 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 angiogenin gene (ANG) on chromosome 14q11. Is a True Amyotrophic lateral sclerosis 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. There is evidence this disease is caused by heterozygous mutation in the TARDBP gene that encodes the TDP43 protein on chromosome 1p36. Is a True Amyotrophic lateral sclerosis Inferred relationship Some
Amyotrophic lateral sclerosis with parkinsonism Is a True Amyotrophic lateral sclerosis Inferred relationship Some

This concept is not in any reference sets

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