spinocerebellar degenerations

Preferred Label : spinocerebellar degenerations;

MeSH definition : A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.;

MeSH synonym : degenerations, spinocerebellar; spinocerebellar diseases; degenerations, spino cerebellar; spino cerebellar degenerations; degeneration, spinocerebellar; spino-cerebellar degenerations; degeneration, spino-cerebellar; spino-cerebellar degeneration; degeneration, spino cerebellar; spino cerebellar degeneration; spinocerebellar disease; spinocerebellar degeneration;

CISMeF synonym : degenerations, spino-cerebellar; maries cerebellar ataxia;

DeCS synonym : Marinesco Sj gren Syndrome; Marinesco-Sj gren Syndrome;

MeSH Hyperonym : ataxias, hereditary; Ataxia, Hereditary; Hereditary Ataxia; Hereditary Ataxias; Hereditary Spinocerebellar Degenerations; Degeneration, Hereditary Spinocerebellar; Degenerations, Hereditary Spinocerebellar; Hereditary Spinocerebellar Degeneration; Spinocerebellar Degeneration, Hereditary; Spinocerebellar Degenerations, Hereditary; Inherited Spinocerebellar Degenerations; Degeneration, Inherited Spinocerebellar; Degenerations, Inherited Spinocerebellar; Inherited Spinocerebellar Degeneration; Spinocerebellar Degeneration, Inherited; Spinocerebellar Degenerations, Inherited; Familial Spinocerebellar Degenerations; Degeneration, Familial Spinocerebellar; Degenerations, Familial Spinocerebellar; Familial Spinocerebellar Degeneration; Spinocerebellar Degeneration, Familial; Spinocerebellar Degenerations, Familial;

MeSH hyponym : cerebellar ataxia, early onset; Corticostriatal-Spinal Degeneration; marie cerebellar ataxia; cerebellar degenerations, primary; Marinesco-Sjogren syndrome; cerebellar ataxia, late onset; Early Onset Cerebellar Ataxia; Marinesco Sjogren Syndrome; Syndrome, Marinesco-Sjogren; Hereditary Oligophrenic Cerebello-Lental Degeneration; Hereditary Oligophrenic Cerebello Lental Degeneration; Marinesco-Sjögren Syndrome; Marinesco Sjögren Syndrome; Syndrome, Marinesco-Sjögren; Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism; Hypogonadism, Marinesco-Sjogren Syndrome-Hypergonadotrophic; Marinesco Sjogren Syndrome Hypergonadotrophic Hypogonadism; Syndrome-Hypergonadotrophic Hypogonadism, Marinesco-Sjogren; Marinesco-Sjogren Syndrome-Myopathy; Marinesco Sjogren Syndrome Myopathy; Syndrome-Myopathy, Marinesco-Sjogren; Marinesco-Sjogren-Garland Syndrome; Marinesco Sjogren Garland Syndrome; Syndrome, Marinesco-Sjogren-Garland; Garland-Moorhouse Syndrome; Garland Moorhouse Syndrome; Syndrome, Garland-Moorhouse; Marinesco-Garland Syndrome; Marinesco Garland Syndrome; Syndrome, Marinesco-Garland; Cerebellar Degeneration, Primary; Degeneration, Primary Cerebellar; Degenerations, Primary Cerebellar; Primary Cerebellar Degeneration; Primary Cerebellar Degenerations; Corticostriatal Spinal Degeneration; Corticostriatal-Spinal Degenerations; Degeneration, Corticostriatal-Spinal; Degenerations, Corticostriatal-Spinal; Cerebellar Ataxia, Marie; Marie's Cerebellar Ataxia; Cerebellar Ataxia, Marie's; Late Onset Cerebellar Ataxia;

Wikipedia link : https://en.wikipedia.org/wiki/Spinocerebellar disease;

Details

Origin ID

D013132;

UMLS CUI

C0037952;

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)
- Corticostriatal-spinal degeneration (disorder) [SNOMED CT concept]
- Early onset cerebellar ataxia (disorder) [SNOMED CT concept]
- Early-onset cerebellar ataxia [ICD-10 Sub-category]
- Early-onset cerebellar ataxia [ICD-10 Sub-category (who)]
- Friedreich ataxia (disorder) [SNOMED CT concept]
- Hereditary ataxia [PASCAL descriptor]
- Hereditary ataxia [ICD-10 category]
- Hereditary ataxia [ICD-11 Subcategory]
- Hereditary ataxia [MedDRA Preferred Term]
- Hereditary ataxia [ICD-10 category (who)]
- Hereditary ataxia [MedDRA LLT]
- Hereditary ataxia NOS [MedDRA LLT]
- Hereditary cerebellar ataxia [PASCAL descriptor]
- Marie's cerebellar ataxia (disorder) [SNOMED CT concept]
- Marinesco-Sjogren syndrome [DO Concept]
- Marinesco-Sjögren syndrome [PASCAL descriptor]
- Marinesco-Sjögren syndrome [ORDO Disease]
- Marinesco-Sjögren syndrome (disorder) [SNOMED CT concept]
- Marinesco-sjogren syndrome [OMIM Phenotype]
- Other hereditary ataxias [ICD-10 Sub-category (who)]
- Primary cerebellar degeneration [ICD-9 code]
- Primary cerebellar degeneration [MedDRA Preferred Term]
- Primary cerebellar degeneration (disorder) [SNOMED CT concept]
- SIL1 wt Allele [NCIt concept]
- Spinocerebellar disease [ICD-9 code]
- Spinocerebellar disease [MedDRA LLT]
- Spinocerebellar disorder [MedDRA Preferred Term]
- corticostriatal-spinal degeneration [SNOMED Notion]
- friedreich's ataxia [SNOMED Notion]
- hereditary ataxia [DO Concept]
- marie's cerebellar ataxia [SNOMED Notion]
- marinesco-sjogren syndrome [SNOMED Notion]
- primary cerebellar degeneration [DO Concept]
- primary cerebellar degeneration, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Late onset cerebellar ataxia (disorder) [SNOMED CT concept]
- Late-onset cerebellar ataxia [ICD-10 Sub-category]
- Late-onset cerebellar ataxia [ICD-10 Sub-category (who)]
- Spinocerebellar Ataxia [NCIt concept]
- Spinocerebellar ataxia [PASCAL descriptor]
- Spinocerebellar disease (disorder) [SNOMED CT concept]
- Spinocerebellar tract degeneration [HPO term]
- spinocerebellar ataxia [Disease (Nov.)]
- spinocerebellar ataxia [MedDRA Preferred Term]
- spinocerebellar ataxia [SNOMED Notion]
- spinocerebellar disease, nos [SNOMED Notion]
DO Cross reference
- primary cerebellar degeneration [DO Concept]
Indexing information
- ATXN8OS gene product, human [MeSH Supplementary Concept]
- SCA8 protein, mouse [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Congenital cataracts-facial dysmorphism-neuropathy syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal recessive degenerative and progressive cerebellar ataxia [ORDO Disease]
- Cerebellar ataxia with peripheral neuropathy [ORDO Disease]
- Cerebral disease with cataract [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
Record concept(s)
- Corticostriatal-Spinal Degeneration [MeSH concept]
- Marinesco-Sjogren syndrome [MeSH concept]
- ataxias, hereditary [MeSH concept]
- cerebellar ataxia, early onset [MeSH concept]
- cerebellar ataxia, late onset [MeSH concept]
- cerebellar degenerations, primary [MeSH concept]
- marie cerebellar ataxia [MeSH concept]
- spinocerebellar degenerations [MeSH concept]
Related MeSH Supplementary Concept(s)
- corneal cerebellar syndrome [MeSH Supplementary Concept]
- growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy [MeSH Supplementary Concept]
- hereditary spinal ataxia [MeSH Supplementary Concept]
- infantile onset spinocerebellar ataxia [MeSH Supplementary Concept]
- mousa al din al nassar syndrome [MeSH Supplementary Concept]
- posterior column ataxia [MeSH Supplementary Concept]
- sensorimotor neuropathy with ataxia, autosomal dominant [MeSH Supplementary Concept]
- spinocerebellar ataxia 13 [MeSH Supplementary Concept]
- spinocerebellar ataxia 14 [MeSH Supplementary Concept]
- spinocerebellar ataxia 19 [MeSH Supplementary Concept]
- spinocerebellar ataxia 21 [MeSH Supplementary Concept]
- spinocerebellar ataxia 22 [MeSH Supplementary Concept]
- spinocerebellar ataxia 23 [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [MeSH Supplementary Concept]
- spinocerebellar ataxia 28 [MeSH Supplementary Concept]
- spinocerebellar ataxia 29 [MeSH Supplementary Concept]
- spinocerebellar ataxia 8 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-linked, 2 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-linked, 4 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 2 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 3 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 4 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 5 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 6 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Spinocerebellar ataxia [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar disease [MedDRA LLT]
- Spinocerebellar disease [ICD-9 code]
- Spinocerebellar disease (disorder) [SNOMED CT concept]
- Spinocerebellar disease, unspecified [ICD-9 code]
- Spinocerebellar disease, unspecified [MedDRA LLT]
- Spinocerebellar disorder [MedDRA Preferred Term]
- Spinocerebellar disorder NOS [MedDRA LLT]
- Unspecified spinocerebellar disease [MedDRA LLT]
- spinocerebellar disease, nos [SNOMED Notion]
- spinocerebellar disorder [Disease (Nov.)]
Validated automatic mappings to BTNT
- Hereditary ataxia (disorder) [SNOMED CT concept]
- Marinesco Sjogren syndrome [Disease (Nov.)]
- Marinesco-Sjögren syndrome [ICD-11 More detail]
- Spinocerebellar ataxia (disorder) [SNOMED CT concept]
- corticostriatal spinal degeneration [Disease (Nov.)]

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