Stiff-Person syndrome

Preferred Label : Stiff-Person syndrome;

MeSH definition : A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93);

MeSH synonym : syndrome, stiff-man; syndrome, moersch-woltmann; syndrome, stiff-person; stiff-man syndrome; stiff man syndrome; stiffman syndrome; syndrome, stiffman; moersch-woltmann syndrome; moersch woltmann syndrome; stiff person syndrome; Stiff-Trunk syndrome; Stiff-Baby syndrome; congenital Stiff-Man syndrome; congenital Stiff-Person syndrome; startle syndrome; Stiff-Baby Syndromes; Syndrome, Stiff-Baby; Syndromes, Stiff-Baby; Congenital Stiff Man Syndrome; Congenital Stiff-Man Syndromes; Stiff-Man Syndrome, Congenital; Stiff-Man Syndromes, Congenital; Syndrome, Congenital Stiff-Man; Syndromes, Congenital Stiff-Man; Congenital Stiff-Person Syndromes; Stiff-Person Syndrome, Congenital; Stiff-Person Syndromes, Congenital; Syndrome, Congenital Stiff-Person; Syndromes, Congenital Stiff-Person; Startle Syndromes; Syndrome, Startle; Syndromes, Startle; Stiff Trunk Syndrome; Stiff-Trunk Syndromes; Syndrome, Stiff-Trunk; Syndromes, Stiff-Trunk;

CISMeF synonym : Stiff-Person; familial hyperekplexia; hereditary hyperekplexia;

DeCS synonym : Familial Hyperekplexias; Familial Hyperekplexia; Hereditary Hyperekplexias; Hereditary Hyperekplexia;

MeSH Hyperonym : Hereditary Hyperekplexias; Hyperekplexia, Hereditary; Hyperekplexias, Hereditary;

MeSH hyponym : Familial Hyperekplexias; Hyperekplexia, Familial; Hyperekplexias, Familial;

Wikipedia link : https://en.wikipedia.org/wiki/Stiff-man syndrome;

Details

Origin ID

D016750;

UMLS CUI

C0085292;

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)
- Exaggerated startle response [HPO term]
- Hereditary hyperekplexia [ORDO Disease]
- Hereditary hyperekplexia [ICD-11 More detail]
- Hyperekplexia [ORDO Disease]
- Hyperekplexia [MedDRA LLT]
- Hyperekplexia [OMIM phenotypic series]
- Hyperekplexia 1 [OMIM Phenotype]
- Hyperexplexia [MedDRA Preferred Term]
- Hyperexplexia (finding) [SNOMED CT concept]
- SHR, Rat Strain [NCIt concept]
- Startle epilepsy [PASCAL descriptor]
- glycine receptor alpha 1 [ORDO Gene]
- glycine receptor alpha 1 [HGNC gene]
- hyperekplexia [DO Concept]
Currated CISMeF NLP mapping
- Moersch-Woltman syndrome [MedDRA LLT]
- Stiff Person Syndrome [NCIt concept]
- Stiff man syndrome [PASCAL descriptor]
- Stiff person spectrum disorder [ORDO Disease]
- Stiff person spectrum disorder (disorder) [SNOMED CT concept]
- Stiff person syndrome [MedDRA Preferred Term]
- Stiff person syndrome [ICD-11 More detail]
- Stiff-Person syndrome [DO Concept]
- Stiff-man syndrome [ICD-9 code]
- Stiff-man syndrome [MedDRA LLT]
- Stiff-person syndrome [OMIM Phenotype]
- stiff man syndrome [Disease (Nov.)]
- stiff-man syndrome [SNOMED Notion]
DO Cross reference
- Stiff-Person syndrome [DO Concept]
False automatic mappings
- Stiff skin syndrome [ORDO Disease]
Indexing information
- anti-GAD65 autoantibody [MeSH Supplementary Concept]
- anti-GlyR autoantibody [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Rare neuroinflammatory or neuroimmunological disease [ORDO Disease]
- Unclassified genetic skin disorder [ORDO Disease]
Record concept(s)
- Familial Hyperekplexia [MeSH concept]
- Hereditary Hyperekplexia [MeSH concept]
- Stiff-Person syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Moersch-Woltman syndrome [MedDRA LLT]
- Stiff Person Syndrome [NCIt concept]
- Stiff man syndrome [PASCAL descriptor]
- Stiff person spectrum disorder [ORDO Disease]
- Stiff person spectrum disorder (disorder) [SNOMED CT concept]
- Stiff person syndrome [MedDRA Preferred Term]
- Stiff-Person syndrome [DO Concept]
- Stiff-man syndrome [ICD-9 code]
- Stiff-man syndrome [MedDRA LLT]
- Stiff-person syndrome [OMIM Phenotype]
- stiff man syndrome [Disease (Nov.)]
- stiff-man syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- hyperekplexia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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