MNDA_MND_diagnosis

Codelist metadata

Coding system
SNOMED CT (UK Clinical Edition)
Coding system release
unknown
Author
Tom Nichols
Codelist ID
user/tom-nichols/MNDA-MND-diagnosis
Version ID
03a99744
Number of codes included
69
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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
128212001 Spinal muscular atrophy, type II
155015007 Motor neurone disease
192888001 Motor neurone disease
192889009 Motor neurone disease
192890000 Motor neurone disease NOS
230246005 Progressive bulbar palsy of childhood
230247001 Distal spinal muscular atrophy
230248006 Scapuloperoneal spinal muscular atrophy
230249003 Facioscapulohumeral spinal muscular atrophy
230250003 Facioscapulohumeral spinal muscular atrophy with sensory loss
230251004 Scapulohumeral spinal muscular atrophy
230252006 Oculopharyngeal spinal muscular atrophy
230253001 Bulbospinal neuronopathy
230254007 Western Pacific motor neurone disease
230255008 Madras-type motor neurone disease
230257000 Paraneoplastic motor neurone disease
230258005 Amyotrophic lateral sclerosis with dementia
230264003 Troyer syndrome
230274000 Frontal lobe degeneration with motor neurone disease
230784003 Congenital pseudobulbar palsy
249892007 Progressive pseudobulbar palsy
305719002 Neuromyotonia
31097004 Post poliomyelitis syndrome
37340000 Motor neuron disease
398432008 Bulbar weakness
44395000 Spastic tetraplegia with rigidity syndrome
46251005 Corticospinal motor disease
49793008 Hereditary motor neuron disease
5262007 Spinal muscular atrophy
54280009 Kugelberg-Welander disease
54304004 Progressive bulbar palsy
64383006 Werdnig-Hoffmann disease
646201000000105 Motor neurone disease NOS
699866005 Progressive bulbar palsy with sensorineural deafness
703524005 Spinal muscular atrophy with progressive myoclonic epilepsy
711406009 Autosomal recessive axonal neuropathy with neuromyotonia
711483003 Spinal muscular atrophy with respiratory distress type 1
715565004 Lethal arthrogryposis co-occurrent with anterior horn cell disease
717964007 Juvenile primary lateral sclerosis
718555006 Juvenile amyotrophic lateral sclerosis
719836007 X-linked distal arthrogryposis multiplex congenita
722987009 Amyotrophic lateral sclerosis plus syndrome
723612001 Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
7379000 Pseudobulbar palsy
763067000 Autosomal dominant congenital benign spinal muscular atrophy
763533003 Distal hereditary motor neuropathy Jerash type
766764008 X-linked distal spinal muscular atrophy type 3
770430000 Autosomal recessive distal spinal muscular atrophy type 3
770630005 Distal hereditary motor neuropathy type 1
770727008 Spinal muscular atrophy with respiratory distress type 2
771081007 Distal hereditary motor neuropathy type 7
771238004 Spinal atrophy, ophthalmoplegia, pyramidal syndrome
771302009 Autosomal recessive lower motor neuron disease with childhood onset
771475006 Young adult-onset distal hereditary motor neuropathy
772129007 Autosomal dominant childhood-onset proximal spinal muscular atrophy
783618006 Lower motor neuron syndrome with late-adult onset
784341001 Amyotrophic lateral sclerosis type 4
784391002 Autosomal dominant adult-onset proximal spinal muscular atrophy
785809005 Mills syndrome
81211007 Primary lateral sclerosis
838276009 Amyotrophic lateral sclerosis, parkinsonism, dementia complex
84590007 Lower motor neuron disease
85505000 Adult spinal muscular atrophy
85672005 Anterior horn cell disease
86044005 Amyotrophic lateral sclerosis
864471000000106 Anterior opercular syndrome
866051002 Motor neuron disease due to lead intoxication
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.

motor neurone disease

Included 69 out of 73 matching concepts.

Show matching concepts
  • Adult spinal muscular atrophy (85505000)
  • Amyotrophic lateral sclerosis (86044005)
  • Amyotrophic lateral sclerosis plus syndrome (722987009)
  • Amyotrophic lateral sclerosis type 4 (784341001)
  • Amyotrophic lateral sclerosis with dementia (230258005)
  • Amyotrophic lateral sclerosis, parkinsonism, dementia complex (838276009)
  • Anterior horn cell disease (85672005)
  • Anterior opercular syndrome (864471000000106)
  • 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 axonal neuropathy with neuromyotonia (711406009)
  • Autosomal recessive distal spinal muscular atrophy type 3 (770430000)
  • Autosomal recessive lower motor neuron disease with childhood onset (771302009)
  • Bulbar weakness (398432008)
  • Bulbospinal neuronopathy (230253001)
  • Congenital pseudobulbar palsy (230784003)
  • Corticospinal motor disease (46251005)
  • Distal hereditary motor neuropathy Jerash type (763533003)
  • 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)
  • FH: Motor neurone disease (389279003)
  • Facioscapulohumeral spinal muscular atrophy (230249003)
  • Facioscapulohumeral spinal muscular atrophy with sensory loss (230250003)
  • 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 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 lead intoxication (866051002)
  • Motor neurone disease (155015007)
  • Motor neurone disease (192889009)
  • Motor neurone disease (192888001)
  • Motor neurone disease NOS (192890000)
  • Motor neurone disease NOS (646201000000105)
  • Neuromyotonia (305719002)
  • Oculopharyngeal spinal muscular atrophy (230252006)
  • Paraneoplastic motor neurone disease (230257000)
  • Post poliomyelitis syndrome (31097004)
  • 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 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)
  • 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)
  • Young adult-onset distal hereditary motor neuropathy (771475006)