spinal muscular atrophies of childhood

Preferred Label : spinal muscular atrophies of childhood;

MeSH definition : A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3); A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3);

CISMeF synonym : disease, werdnig hoffman; disease, kugelberg-welander; diseases, werdnig hoffman; hmn proximal type i; disease, werdnig-hoffmann; atrophies, infantile muscular; atrophy, infantile muscular; infantile muscular atrophies; hoffman disease, werdnig; hoffman diseases, werdnig; werdnig hoffman diseases; Kugelberg-Welander syndromes; atrophies, juvenile muscular; atrophy, juvenile muscular; juvenile muscular atrophies; muscular atrophies, juvenile;

DeCS synonym : Muscular Atrophy, Spinal, Intermediate Type; Muscular Atrophy, Spinal, Infantile Chronic Form;

Wikipedia automatic translation : Survival motor neuron spinal muscular atrophy;

MeSH hyponym : HMN (Hereditary motor neuropathy) proximal type I; muscular atrophy, spinal, type II; juvenile spinal muscular atrophy; Spinal Muscular Atrophy Type 2; Type II Spinal Muscular Atrophy; Spinal Muscular Atrophy Type II; Spinal Muscular Atrophy, Type II; Spinal Muscular Atrophy, Infantile; Muscular Atrophy, Spinal, Infantile; Werdnig-Hoffmann Disease; Werdnig Hoffmann Disease; Muscular Atrophy, Spinal, Type I; Spinal Muscular Atrophy Type I; SMA, Infantile Acute Form; Type I Spinal Muscular Atrophy; Proximal Hereditary Motor Neuropathy Type I; Werdnig Hoffman Disease; Muscular Atrophy, Infantile; Infantile Muscular Atrophy; Spinal Muscular Atrophy 1; Infantile Spinal Muscular Atrophy; Spinal Muscular Atrophy, Type I; Spinal Muscular Atrophy Type III; Spinal Muscular Atrophy, Type III; Type III Spinal Muscular Atrophy; Muscular Atrophy, Juvenile; Juvenile Muscular Atrophy; Kugelberg-Welander Disease; Kugelberg Welander Disease; Spinal Muscular Atrophy, Type 3; Kugelberg-Welander Syndrome; Kugelberg Welander Syndrome; Spinal Muscular Atrophy, Mild Childhood and Adolescent Form; Spinal Muscular Atrophy, Juvenile; Muscular Atrophy, Spinal, Type III; Muscular Atrophy, Spinal, Intermediate Type;

MeSH annotation : infantile, childhood or adolescent: for other, MUSCULAR ATROPHY, SPINAL is available;

Wikipedia link : https://en.wikipedia.org/wiki/Survival motor neuron spinal muscular atrophy;

Details

Origin ID

D014897;

UMLS CUI

C0700595;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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)
- Acquired idiopathic sideroblastic anemia [ORDO Disease]
- Asia [NCIt concept]
- Kugelberg-Welander disease [PASCAL descriptor]
- Kugelberg-Welander disease [ICD-9 code]
- Kugelberg-Welander disease (disorder) [SNOMED CT concept]
- Late infantile spinal muscular atrophy, Type II [ICD-11 Subcategory]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
- Proximal spinal muscular atrophy type 3 [ORDO Disease]
- Spinal Muscular Atrophy Type 2 [NCIt concept]
- Spinal muscular atrophy type I [MedDRA LLT]
- Spinal muscular atrophy type II [MedDRA LLT]
- Spinal muscular atrophy type III [MedDRA LLT]
- Spinal muscular atrophy, type I [OMIM Phenotype]
- Spinal muscular atrophy, type II [OMIM Phenotype]
- Spinal muscular atrophy, type II (disorder) [SNOMED CT concept]
- Spinal muscular atrophy, type III [OMIM Phenotype]
- Werdnig-Hoffmann disease [PASCAL descriptor]
- Werdnig-Hoffmann disease [DO Concept]
- Werdnig-Hoffmann disease [ICD-9 code]
- Werdnig-Hoffmann disease [MedDRA LLT]
- Werdnig-Hoffmann disease (disorder) [SNOMED CT concept]
- childhood spinal muscular atrophy [DO Concept]
- intermediate spinal muscular atrophy [DO Concept]
- juvenile spinal muscular atrophy [DO Concept]
- kugelberg-welander disease [SNOMED Notion]
- werdnig-hoffmann disease [SNOMED Notion]
Currated CISMeF NLP mapping
- Spinal Muscular Atrophy of Childhood [NCIt concept]
- spinal muscular atrophies of childhood [Disease (Nov.)]
DO Cross reference
- Werdnig-Hoffmann disease [DO Concept]
- childhood spinal muscular atrophy [DO Concept]
- intermediate spinal muscular atrophy [DO Concept]
- juvenile spinal muscular atrophy [DO Concept]
Manual NTBT mappings (CISMeF)
- Proximal spinal muscular atrophy [ORDO Disease]
MeSH Descriptor(s) used for indexing
- survival of motor neuron 1 protein [MeSH Descriptor]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Record concept(s)
- HMN (Hereditary motor neuropathy) proximal type I [MeSH concept]
- Muscular atrophy, spinal, infantile chronic form [MeSH concept]
- juvenile spinal muscular atrophy [MeSH concept]
- muscular atrophy, spinal, type II [MeSH concept]
- spinal muscular atrophies of childhood [MeSH concept]
Related MeSH Supplementary Concept(s)
- amyotrophy, monomelic [MeSH Supplementary Concept]
- hamano tsukamoto syndrome [MeSH Supplementary Concept]
- spinal muscular atrophy with microcephaly and mental subnormality [MeSH Supplementary Concept]
- spinal muscular atrophy, childhood, proximal, autosomal dominant [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH Supplementary Concept]
- spinal muscular atrophy, type I, with congenital bone fractures [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- pediatrics [CISMeF Metaterm]
See also inter- (CISMeF)
- olesoxime [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinal Muscular Atrophy of Childhood [NCIt concept]
- childhood spinal muscular atrophy [DO Concept]
- spinal muscular atrophies of childhood [Disease (Nov.)]
Validated automatic mappings to BTNT
- Infantile spinal muscular atrophy, Type I [ICD-11 Subcategory]
- Juvenile form spinal muscular dystrophy, Type III [ICD-11 Subcategory]
- Kugelberg-Welander disease [MedDRA LLT]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- Spinal Muscular Atrophy Type 3 [NCIt concept]
- Werdnig-Hoffmann Disease [NCIt concept]
- spinal muscular atrophy type I [Disease (Nov.)]
- spinal muscular atrophy type II [Disease (Nov.)]
- spinal muscular atrophy type III [Disease (Nov.)]

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