MNDA_MND_diagnosis

Codelist metadata

Coding system
SNOMED CT (UK Clinical Edition)
Coding system release
39.5.0
Author
Tom Nichols
Codelist ID
user/tom-nichols/MNDA-MND-diagnosis
Version ID
00d24a28
Number of codes included
43
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Versions

  1. 00d24a28 Published
    Created: 20 Mar 2025 at 10:59
  2. 282630ba Published
    Created: 19 Mar 2025 at 11:21
  3. 0c63fd8f Published
    Created: 19 Mar 2025 at 09:05
  4. 03a99744 Published
    Created: 11 May 2022 at 14:04

About

Description

Codes indicating a diagnosis of Motor Neuron Disease. The code list is used to identify patients with Motor Neuron Disease for the purposes of the MND Alert systems, which look to identify patients with computable symptoms and signs of MND, in order to prompt a clinical review to consider whether the patient should be referred. Use 1 - patients with these codes are considered to have MND, and therefore do not need to trigger the alert. Use 2 - patients with these codes have a diagnosis of MND and therefore help understand disease incidence and prevalence, and specifically where they appear after an MND Alert trigger, can be used to analyse the contribution of the alert system.

Methodology

Primary inclusion was from a code list developed by MND Association and University of Oxford in the READ v2 terminology. It was mapped to SNOMED CT using the national mapping tables. Secondary development was by collaboration between clinical advisors at PRIMIS (University of Nottingham) and a neurologist from University of Sheffield specialising in MND.

Inclusions: Codes indicating Motor Neuron Disease, where the aetiology is inferred to be a progressive neurodegenerative disorder, including but not limited to the subtypes of ALS, PBP, PMA, PLS, SBMA

Exclusions: Motor neuropathy limited to peripheral nerves (as opposed to the central nervous system and upper motor neurons) Acquired motor neuron disease with a specified underlying aetiology other than a progressive neurodenegerative disorder Some specified syndromal conditions e.g. o Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome

Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.

We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.

code term
103851000119100 Restrictive lung disease due to amyotrophic lateral sclerosis
1197523001 Autosomal dominant amyotrophic lateral sclerosis type 1
1197524007 Autosomal recessive amyotrophic lateral sclerosis type 1
1201863001 Amyotrophic lateral sclerosis type 1
1201947005 Juvenile amyotrophic lateral sclerosis type 2
1201950008 Amyotrophic lateral sclerosis type 3
1201961000 Juvenile amyotrophic lateral sclerosis type 5
1204334005 Amyotrophic lateral sclerosis type 6
1204349002 Amyotrophic lateral sclerosis type 7
1204350002 Amyotrophic lateral sclerosis type 8
1204351003 Amyotrophic lateral sclerosis type 9
1208412003 Amyotrophic lateral sclerosis type 10
1259121008 Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea
1259122001 Amyotrophic lateral sclerosis with parkinsonism
1259123006 Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula
1259124000 Amyotrophic lateral sclerosis with frontotemporal dementia
1259125004 Amyotrophic lateral sclerosis with multiple system atrophy
1259126003 Amyotrophic lateral sclerosis with autonomic dysfunction
1259127007 Amyotrophic lateral sclerosis with cerebellar dysfunction
1259129005 Amyotrophic lateral sclerosis with spinocerebellar ataxia
230254007 Western Pacific motor neurone disease
230257000 Paraneoplastic motor neurone disease
230258005 Amyotrophic lateral sclerosis with dementia
230274000 Frontal lobe degeneration with motor neurone disease
249892007 Progressive pseudobulbar palsy
37340000 Motor neuron disease
398432008 Bulbar weakness
46251005 Corticospinal motor disease
49793008 Hereditary motor neuron disease
54304004 Progressive bulbar palsy
699866005 Progressive bulbar palsy with sensorineural deafness
718555006 Juvenile amyotrophic lateral sclerosis
722987009 Amyotrophic lateral sclerosis plus syndrome
7379000 Pseudobulbar palsy
784341001 Amyotrophic lateral sclerosis type 4
785809005 Mills syndrome
81211007 Primary lateral sclerosis
838276009 Amyotrophic lateral sclerosis, parkinsonism, dementia complex
84590007 Lower motor neuron disease
85672005 Anterior horn cell disease
86044005 Amyotrophic lateral sclerosis
88923002 Progressive muscular atrophy
95647008 Upper motor neuron disease

This page shows the search terms that were used to build the codelist. Concepts that match the search terms, but which were excluded, are in faint grey.

Amyotrophic lateral sclerosis

Included 26 out of 41 matching concepts.

Show matching concepts
  • Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (1024961000000104)
  • Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (1024971000000106)
  • Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised score (1024991000000105)
  • Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (718646004)
  • Amyotrophic Lateral Sclerosis Functional Rating Scale Revised score (718648003)
  • Amyotrophic lateral sclerosis (86044005)
  • Amyotrophic lateral sclerosis drugs Band 1 (221551000000100)
  • Amyotrophic lateral sclerosis drugs band 1 (272971000000109)
  • Amyotrophic lateral sclerosis plus syndrome (722987009)
  • Amyotrophic lateral sclerosis type 1 (1201863001)
  • Amyotrophic lateral sclerosis type 10 (1208412003)
  • Amyotrophic lateral sclerosis type 3 (1201950008)
  • Amyotrophic lateral sclerosis type 4 (784341001)
  • Amyotrophic lateral sclerosis type 6 (1204334005)
  • Amyotrophic lateral sclerosis type 7 (1204349002)
  • Amyotrophic lateral sclerosis type 8 (1204350002)
  • Amyotrophic lateral sclerosis type 9 (1204351003)
  • Amyotrophic lateral sclerosis with autonomic dysfunction (1259126003)
  • Amyotrophic lateral sclerosis with cerebellar dysfunction (1259127007)
  • Amyotrophic lateral sclerosis with dementia (230258005)
  • Amyotrophic lateral sclerosis with frontotemporal dementia (1259124000)
  • Amyotrophic lateral sclerosis with multiple system atrophy (1259125004)
  • Amyotrophic lateral sclerosis with parkinsonism (1259122001)
  • Amyotrophic lateral sclerosis with spinocerebellar ataxia (1259129005)
  • Amyotrophic lateral sclerosis, parkinsonism, dementia complex (838276009)
  • Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula (1259123006)
  • Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea (1259121008)
  • Assessment using Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (1024981000000108)
  • Assessment using Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (718645000)
  • Assessment using Norris Amyotrophic Lateral Sclerosis Scale (1091321000000102)
  • Autosomal dominant amyotrophic lateral sclerosis type 1 (1197523001)
  • Autosomal recessive amyotrophic lateral sclerosis type 1 (1197524007)
  • Family history of amyotrophic lateral sclerosis (430727006)
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (703544004)
  • Juvenile amyotrophic lateral sclerosis (718555006)
  • Juvenile amyotrophic lateral sclerosis type 2 (1201947005)
  • Juvenile amyotrophic lateral sclerosis type 5 (1201961000)
  • Norris Amyotrophic Lateral Sclerosis Scale (1092451000000105)
  • Norris Amyotrophic Lateral Sclerosis Scale score (770614002)
  • Norris Amyotrophic Lateral Sclerosis Scale score (1091341000000109)
  • Restrictive lung disease due to amyotrophic lateral sclerosis (103851000119100)

Kennedy

Included 0 out of 8 matching concepts.

Show matching concepts
  • Acrofacial dysostosis Kennedy Teebi type (720427009)
  • Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (1186734006)
  • Blood group antibody Kennedy (36907009)
  • Blood group antigen Kennedy (11684009)
  • Bulbospinal neuronopathy (230253001)
  • Foster-Kennedy syndrome (87764000)
  • Hawkins-Kennedy test (1162710006)
  • Vaginal buttressing of urethra (& [Kelly] or [Kennedy]) (176228001)

Lower motor neuron disease

Included 2 out of 32 matching concepts.

Show matching concepts
  • Adult spinal muscular atrophy (85505000)
  • Anterior horn cell disease (85672005)
  • Autosomal dominant adult-onset proximal spinal muscular atrophy (784391002)
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy (772129007)
  • Autosomal dominant congenital benign spinal muscular atrophy (763067000)
  • Autosomal recessive lower motor neuron disease with childhood onset (771302009)
  • Bell's palsy (193093009)
  • Bulbospinal neuronopathy (230253001)
  • Distal hereditary motor neuropathy type 1 (770630005)
  • Distal hereditary motor neuropathy type 7 (771081007)
  • Distal spinal muscular atrophy (230247001)
  • Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (1172588008)
  • Facioscapulohumeral spinal muscular atrophy (230249003)
  • Facioscapulohumeral spinal muscular atrophy with sensory loss (230250003)
  • Familial recurrent peripheral facial palsy (783257005)
  • Kugelberg-Welander disease (54280009)
  • Lethal arthrogryposis co-occurrent with anterior horn cell disease (715565004)
  • Lower motor neuron disease (84590007)
  • Lower motor neuron syndrome with late-adult onset (783618006)
  • Oculopharyngeal spinal muscular atrophy (230252006)
  • Progressive bulbar palsy of childhood (230246005)
  • Scapulohumeral spinal muscular atrophy (230251004)
  • Scapuloperoneal spinal muscular atrophy (230248006)
  • Spinal atrophy, ophthalmoplegia, pyramidal syndrome (771238004)
  • Spinal muscular atrophy (5262007)
  • Spinal muscular atrophy with progressive myoclonic epilepsy (703524005)
  • Spinal muscular atrophy with respiratory distress type 2 (770727008)
  • Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (723612001)
  • Spinal muscular atrophy, type II (128212001)
  • Werdnig-Hoffmann disease (64383006)
  • X-linked distal arthrogryposis multiplex congenita (719836007)
  • X-linked distal spinal muscular atrophy type 3 (766764008)

Primary lateral sclerosis

Included 1 out of 2 matching concepts.

Show matching concepts
  • Juvenile primary lateral sclerosis (717964007)
  • Primary lateral sclerosis (81211007)

Progressive muscular atrophy

Included 1 out of 4 matching concepts.

Show matching concepts
  • Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (1172588008)
  • Post poliomyelitis syndrome (31097004)
  • Progressive muscular atrophy (88923002)
  • Werdnig-Hoffmann disease (64383006)

motor neurone disease

Included 42 out of 100 matching concepts.

Show matching concepts
  • Adult spinal muscular atrophy (85505000)
  • Amyotrophic lateral sclerosis (86044005)
  • Amyotrophic lateral sclerosis plus syndrome (722987009)
  • Amyotrophic lateral sclerosis type 1 (1201863001)
  • Amyotrophic lateral sclerosis type 10 (1208412003)
  • Amyotrophic lateral sclerosis type 3 (1201950008)
  • Amyotrophic lateral sclerosis type 4 (784341001)
  • Amyotrophic lateral sclerosis type 6 (1204334005)
  • Amyotrophic lateral sclerosis type 7 (1204349002)
  • Amyotrophic lateral sclerosis type 8 (1204350002)
  • Amyotrophic lateral sclerosis type 9 (1204351003)
  • Amyotrophic lateral sclerosis with autonomic dysfunction (1259126003)
  • Amyotrophic lateral sclerosis with cerebellar dysfunction (1259127007)
  • Amyotrophic lateral sclerosis with dementia (230258005)
  • Amyotrophic lateral sclerosis with frontotemporal dementia (1259124000)
  • Amyotrophic lateral sclerosis with multiple system atrophy (1259125004)
  • Amyotrophic lateral sclerosis with parkinsonism (1259122001)
  • Amyotrophic lateral sclerosis with spinocerebellar ataxia (1259129005)
  • Amyotrophic lateral sclerosis, parkinsonism, dementia complex (838276009)
  • Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula (1259123006)
  • Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea (1259121008)
  • Anterior horn cell disease (85672005)
  • Anterior opercular syndrome (864471000000106)
  • Autosomal dominant adult-onset proximal spinal muscular atrophy (784391002)
  • Autosomal dominant amyotrophic lateral sclerosis type 1 (1197523001)
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy (772129007)
  • Autosomal dominant congenital benign spinal muscular atrophy (763067000)
  • Autosomal recessive amyotrophic lateral sclerosis type 1 (1197524007)
  • Autosomal recessive axonal neuropathy with neuromyotonia (711406009)
  • Autosomal recessive lower motor neuron disease with childhood onset (771302009)
  • Bell's palsy (193093009)
  • Bulbar weakness (398432008)
  • Bulbospinal neuronopathy (230253001)
  • Congenital pseudobulbar palsy (230784003)
  • Corticospinal motor disease (46251005)
  • Distal hereditary motor neuropathy type 1 (770630005)
  • Distal hereditary motor neuropathy type 7 (771081007)
  • Distal spinal muscular atrophy (230247001)
  • Drugs used for the treatment of motor neurone disease (323360002)
  • Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (1172588008)
  • FH: Motor neurone disease (389279003)
  • Facioscapulohumeral spinal muscular atrophy (230249003)
  • Facioscapulohumeral spinal muscular atrophy with sensory loss (230250003)
  • Familial recurrent peripheral facial palsy (783257005)
  • Family history of amyotrophic lateral sclerosis (430727006)
  • Family history: Motor neurone disease (160344000)
  • Frontal lobe degeneration with motor neurone disease (230274000)
  • Hereditary motor neuron disease (49793008)
  • Juvenile amyotrophic lateral sclerosis (718555006)
  • Juvenile amyotrophic lateral sclerosis type 2 (1201947005)
  • Juvenile amyotrophic lateral sclerosis type 5 (1201961000)
  • Juvenile primary lateral sclerosis (717964007)
  • Kugelberg-Welander disease (54280009)
  • Lethal arthrogryposis co-occurrent with anterior horn cell disease (715565004)
  • Lower motor neuron disease (84590007)
  • Lower motor neuron syndrome with late-adult onset (783618006)
  • Madras-type motor neurone disease (230255008)
  • Mills syndrome (785809005)
  • Motor neuron disease (37340000)
  • Motor neuron disease due to and following radiotherapy to spinal cord (1263531001)
  • Motor neuron disease due to gammopathy (1263538007)
  • Motor neuron disease due to hereditary spastic paraplegia (1263536006)
  • Motor neuron disease due to herpes zoster (1263534009)
  • Motor neuron disease due to human immunodeficiency virus infection (1263535005)
  • Motor neuron disease due to lead intoxication (866051002)
  • Motor neuron disease due to neoplastic disease (1263497002)
  • Motor neurone disease (155015007)
  • Motor neurone disease (192889009)
  • Motor neurone disease (192888001)
  • Motor neurone disease NOS (192890000)
  • Motor neurone disease NOS (646201000000105)
  • Neurogenic scapuloperoneal syndrome Kaeser type (1208615009)
  • Neuromyotonia (305719002)
  • O'Sullivan McLeod syndrome (1299151005)
  • Oculopharyngeal spinal muscular atrophy (230252006)
  • Paraneoplastic motor neurone disease (230257000)
  • Post poliomyelitis syndrome (31097004)
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures (1172689007)
  • Primary lateral sclerosis (81211007)
  • Progressive bulbar palsy (54304004)
  • Progressive bulbar palsy of childhood (230246005)
  • Progressive bulbar palsy with sensorineural deafness (699866005)
  • Progressive muscular atrophy (88923002)
  • Progressive pseudobulbar palsy (249892007)
  • Pseudobulbar palsy (7379000)
  • Scapulohumeral spinal muscular atrophy (230251004)
  • Scapuloperoneal spinal muscular atrophy (230248006)
  • Spastic tetraplegia with rigidity syndrome (44395000)
  • Spinal atrophy, ophthalmoplegia, pyramidal syndrome (771238004)
  • Spinal muscular atrophy (5262007)
  • Spinal muscular atrophy with progressive myoclonic epilepsy (703524005)
  • Spinal muscular atrophy with respiratory distress type 2 (770727008)
  • Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (723612001)
  • Spinal muscular atrophy, type II (128212001)
  • Troyer syndrome (230264003)
  • Upper motor neuron disease (95647008)
  • Werdnig-Hoffmann disease (64383006)
  • Western Pacific motor neurone disease (230254007)
  • X-linked distal arthrogryposis multiplex congenita (719836007)
  • X-linked distal spinal muscular atrophy type 3 (766764008)

peripheral motor neuropathy

Included 0 out of 23 matching concepts.

Show matching concepts
  • Asymmetric proximal motor neuropathy due to diabetes mellitus (79554005)
  • Autoimmune peripheral motor neuropathy (1259102000)
  • Autosomal dominant congenital benign spinal muscular atrophy (763067000)
  • Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (1179294000)
  • Autosomal dominant distal hereditary motor neuropathy (1156837002)
  • Autosomal dominant spastic paraplegia type 17 (230263009)
  • Autosomal recessive distal hereditary motor neuropathy (1156850001)
  • Autosomal recessive distal spinal muscular atrophy type 3 (770430000)
  • Distal hereditary motor neuropathy Jerash type (763533003)
  • Distal hereditary motor neuropathy type 1 (770630005)
  • Distal hereditary motor neuropathy type 2 (1230343006)
  • Distal hereditary motor neuropathy type 5 (1197152005)
  • Distal hereditary motor neuropathy type 7 (771081007)
  • Hereditary dysautonomia with motor neuropathy (230557001)
  • Peripheral motor neuropathy (95663000)
  • Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (782752005)
  • Spinal muscular atrophy with respiratory distress type 1 (711483003)
  • Spinal muscular atrophy with respiratory distress type 2 (770727008)
  • Symmetric proximal motor neuropathy due to diabetes mellitus (39127005)
  • X-linked distal arthrogryposis multiplex congenita (719836007)
  • X-linked distal hereditary motor neuropathy (1156840002)
  • X-linked distal spinal muscular atrophy type 3 (766764008)
  • Young adult-onset distal hereditary motor neuropathy (771475006)

progressive bulbar palsy

Included 2 out of 3 matching concepts.

Show matching concepts
  • Progressive bulbar palsy (54304004)
  • Progressive bulbar palsy of childhood (230246005)
  • Progressive bulbar palsy with sensorineural deafness (699866005)

spinal bulbar muscular atrophy

Included 0 out of 0 matching concepts.

Show matching concepts

spinal muscular atrophy

Included 0 out of 42 matching concepts.

Show matching concepts
  • Adult spinal muscular atrophy (85505000)
  • Autosomal dominant adult-onset proximal spinal muscular atrophy (784391002)
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy (772129007)
  • Autosomal dominant congenital benign spinal muscular atrophy (763067000)
  • Autosomal recessive distal spinal muscular atrophy type 3 (770430000)
  • Autosomal recessive lower motor neuron disease with childhood onset (771302009)
  • Bulbospinal neuronopathy (230253001)
  • Carrier of spinal muscular atrophy (481462461000119102)
  • Distal hereditary motor neuropathy Jerash type (763533003)
  • Distal hereditary motor neuropathy type 1 (770630005)
  • Distal hereditary motor neuropathy type 2 (1230343006)
  • Distal hereditary motor neuropathy type 5 (1197152005)
  • Distal hereditary motor neuropathy type 7 (771081007)
  • Distal spinal muscular atrophy (230247001)
  • Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (1172588008)
  • Facioscapulohumeral spinal muscular atrophy (230249003)
  • Facioscapulohumeral spinal muscular atrophy with sensory loss (230250003)
  • Hereditary canine spinal muscular atrophy (111495008)
  • Kugelberg-Welander disease (54280009)
  • Lower motor neuron syndrome with late-adult onset (783618006)
  • Oculopharyngeal spinal muscular atrophy (230252006)
  • Prenatal-onset spinal muscular atrophy with congenital bone fractures (1172689007)
  • Progressive bulbar palsy of childhood (230246005)
  • Scapulohumeral spinal muscular atrophy (230251004)
  • Scapuloperoneal spinal muscular atrophy (230248006)
  • Spinal atrophy, ophthalmoplegia, pyramidal syndrome (771238004)
  • Spinal muscular atrophy (5262007)
  • Spinal muscular atrophy NOS (192887006)
  • Spinal muscular atrophy NOS (646191000000108)
  • Spinal muscular atrophy with progressive myoclonic epilepsy (703524005)
  • Spinal muscular atrophy with respiratory distress type 1 (711483003)
  • Spinal muscular atrophy with respiratory distress type 2 (770727008)
  • Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (723612001)
  • Spinal muscular atrophy, type II (128212001)
  • Unspecified spinal muscular atrophy (646181000000106)
  • Unspecified spinal muscular atrophy (192885003)
  • Werdnig-Hoffmann disease (64383006)
  • X-linked distal arthrogryposis multiplex congenita (719836007)
  • X-linked distal spinal muscular atrophy type 3 (766764008)
  • Young adult-onset distal hereditary motor neuropathy (771475006)
  • [X]Other inherited spinal muscular atrophy (194461001)
  • [X]Other inherited spinal muscular atrophy (430031000000107)