muscular atrophy, spinal

Preferred Label : muscular atrophy, spinal;

MeSH definition : A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089);

MeSH synonym : atrophy, spinal muscular; spinal muscular atrophy; spinal amyotrophy; amyotrophies, spinal; amyotrophy, spinal; spinal amyotrophies;

MeSH hyponym : progressive muscular atrophy; myelopathic muscular atrophy; progressive proximal myelopathic muscular atrophy; distal spinal muscular atrophy; bulbospinal neuronopathy; scapuloperoneal form of spinal muscular atrophy; oculopharyngeal spinal muscular atrophy; hereditary motor neuronopathy; Spinal Muscular Atrophy, Distal; Hereditary Motor Neuronopathies; Motor Neuronopathies, Hereditary; Motor Neuronopathy, Hereditary; Neuronopathies, Hereditary Motor; Neuronopathy, Hereditary Motor; Spinal Muscular Atrophy, Scapuloperoneal Form; Spinal Muscular Atrophy, Scapuloperoneal; Amyotrophy, Neurogenic Scapuloperoneal, New England Type; Scapuloperoneal Spinal Muscular Atrophy; Spinal Muscular Atrophy, Oculopharyngeal; Atrophies, Progressive Muscular; Atrophy, Progressive Muscular; Muscular Atrophies, Progressive; Muscular Atrophy, Progressive; Progressive Muscular Atrophies; Progressive Myelopathic Muscular Atrophy; Myelopathic Muscular Atrophy, Progressive; Proximal Myelopathic Muscular Atrophy, Progressive; Bulbospinal Neuronopathies; Neuronopathies, Bulbospinal; Neuronopathy, Bulbospinal; Atrophy, Myelopathic Muscular; Muscular Atrophy, Myelopathic; Adult-Onset Spinal Muscular Atrophy; Adult Onset Spinal Muscular Atrophy; Muscular Atrophy, Adult Spinal; Adult Spinal Muscular Atrophy;

MeSH annotation : MUSCULAR ATROPHY, SPINAL, INFANTILE see SPINAL MUSCULAR ATROPHIES OF CHILDHOOD is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Muscular atrophy, spinal;

Details

Origin ID

D009134;

UMLS CUI

C0026847;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Adult onset spinal muscular atrophy, Type IV [ICD-11 Subcategory]
- Adult spinal muscular atrophy (disorder) [SNOMED CT concept]
- Angelman syndrome [OMIM Phenotype]
- Arsenic [LOINC component]
- Axial spondyloarthritis [ICD-11 Subcategory]
- Bulbospinal neuronopathy (disorder) [SNOMED CT concept]
- Distal hereditary motor neuropathy [ORDO Disease]
- Distal spinal muscular atrophy [ORDO Disease]
- Distal spinal muscular atrophy (disorder) [SNOMED CT concept]
- Kennedy disease [ORDO Disease]
- Left atrium [FMA entity]
- Motor neuron disease [ICD-10 Sub-category]
- Motor neuron disease [ICD-10 Sub-category (who)]
- Neurogenic scapuloperoneal syndrome, Kaeser type [ORDO Disease]
- Oculopharyngeal spinal muscular atrophy (disorder) [SNOMED CT concept]
- Other inherited spinal muscular atrophy [ICD-10 Sub-category (who)]
- Progressive Muscular Atrophy [NCIt concept]
- Progressive muscular atrophy [ORDO Disease]
- Progressive muscular atrophy [ICD-11 Subcategory]
- Progressive muscular atrophy [MedDRA Preferred Term]
- Progressive muscular atrophy [ICD-9 code]
- Progressive muscular atrophy (disorder) [SNOMED CT concept]
- Progressive neuropathic muscular atrophy [ICD-11 More detail]
- Progressive spinal muscular atrophy [HPO term]
- Proximal spinal muscular atrophy [ORDO Disease]
- SMN1 wt Allele [NCIt concept]
- Scapuloperoneal form of spinal muscular atrophy [ICD-11 More detail]
- Scapuloperoneal spinal muscular atrophy [ORDO Disease]
- Scapuloperoneal spinal muscular atrophy [OMIM Phenotype]
- Scapuloperoneal syndrome, neurogenic, kaeser type [OMIM Phenotype]
- Sickle cell trait [ICD-11 Subcategory]
- Smooth muscle Ab [LOINC component]
- Southern Sami Language [NCIt concept]
- Spinal amyotrophy [PASCAL descriptor]
- Spinal muscular atrophy [ICD-9 code]
- Spinal muscular atrophy [LOINC component]
- Spinal muscular atrophy adult onset [MedDRA LLT]
- Spinal muscular atrophy, scapuloperoneal [OMIM Phenotype]
- Spinal muscular atrophy, unspecified [ICD-10 Sub-category (who)]
- adult spinal muscular atrophy [SNOMED Notion]
- arsenic [Substance BNPC]
- arsenic [MedlinePlus Topic]
- arsenic, nos [SNOMED Notion]
- progressive muscular atrophy [DO Concept]
- progressive muscular atrophy [SNOMED Notion]
- scapuloperoneal spinal muscular atrophy [DO Concept]
- social worker [Q-code]
DO Cross reference
- progressive muscular atrophy [DO Concept]
- scapuloperoneal spinal muscular atrophy [DO Concept]
- spinal muscular atrophy [DO Concept]
HPO term
- Spinal muscular atrophy [HPO term]
Indexing information
- GEMIN2 protein, human [MeSH Supplementary Concept]
- SERF1A protein, human [MeSH Supplementary Concept]
- Sip1 protein, mouse [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- 5q spinal muscular atrophy [Indication]
- Autosomal dominant distal hereditary motor neuropathy [ORDO Disease]
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]
- X-linked distal spinal muscular atrophy type 3 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Bulbospinal muscular atrophy of adult [ORDO Disease]
- Genetic motor neuron disease [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease [ORDO Disease]
- Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
MedlinePlus topic(s)
- spinal muscular atrophy [MedlinePlus Topic]
Record concept(s)
- bulbospinal neuronopathy [MeSH concept]
- distal spinal muscular atrophy [MeSH concept]
- hereditary motor neuronopathy [MeSH concept]
- muscular atrophy, spinal [MeSH concept]
- myelopathic muscular atrophy [MeSH concept]
- oculopharyngeal spinal muscular atrophy [MeSH concept]
- progressive muscular atrophy [MeSH concept]
- progressive proximal myelopathic muscular atrophy [MeSH concept]
- scapuloperoneal form of spinal muscular atrophy [MeSH concept]
Related MeSH Supplementary Concept(s)
- camptocormia [MeSH Supplementary Concept]
- distal hereditary motor neuropathy, type ii [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type I [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type IIB [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type V [MeSH Supplementary Concept]
- neuronopathy, distal hereditary motor, type viib [MeSH Supplementary Concept]
- neuropathy, distal hereditary motor, type IIA [MeSH Supplementary Concept]
- neuropathy, distal hereditary motor, type VIIA [MeSH Supplementary Concept]
- scapuloperoneal syndrome, neurogenic, kaeser type [MeSH Supplementary Concept]
- spinal muscular atrophy 4 [MeSH Supplementary Concept]
- spinal muscular atrophy with mental retardation [MeSH Supplementary Concept]
- spinal muscular atrophy with respiratory distress 1 [MeSH Supplementary Concept]
- spinal muscular atrophy, Late-Onset, finkel type [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, X-Linked 3 [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, autosomal recessive, 3 [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, congenital nonprogressive [MeSH Supplementary Concept]
- spinal muscular atrophy, facioscapulohumeral type [MeSH Supplementary Concept]
- spinal muscular atrophy, jerash type [MeSH Supplementary Concept]
- spinal muscular atrophy, ryukyuan type [MeSH Supplementary Concept]
- spinal muscular atrophy, segmental [MeSH Supplementary Concept]
- spinal muscular atrophy, type IV [MeSH Supplementary Concept]
SNOMED CT : localisation
- motor neurons [MeSH Descriptor]
See also (suggested by CISMeF)
- muscular atrophy [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinal Muscular Atrophy [NCIt concept]
- Spinal amyotrophy [MedDRA LLT]
- Spinal muscular atrophy [ICD-9 code]
- Spinal muscular atrophy [MedDRA Preferred Term]
- Spinal muscular atrophy [HPO term]
- Spinal muscular atrophy [ICD-11 Category]
- Spinal muscular atrophy [LOINC component]
- Spinal muscular atrophy (disorder) [SNOMED CT concept]
- Spinal muscular atrophy, unspecified [MedDRA LLT]
- Spinal muscular atrophy, unspecified [ICD-10 Sub-category]
- Spinal muscular atrophy, unspecified [ICD-9 code]
- spinal muscular atrophy [DO Concept]
- spinal muscular atrophy [Disease (Nov.)]
- spinal muscular atrophy [MedlinePlus Topic]
- spinal muscular atrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Bulbospinal muscular atrophy [ICD-11 More detail]
- Scapuloperoneal spinal muscular atrophy (disorder) [SNOMED CT concept]
- adult spinal muscular atrophy [DO Concept]
- distal spinal muscular atrophy [Disease (Nov.)]
- progressive muscular atrophy [Disease (Nov.)]
- scapuloperoneal spinal muscular atrophy [Disease (Nov.)]
- spinal muscular atrophy type IV [Disease (Nov.)]

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