isaacs syndrome

Preferred Label : isaacs syndrome;

MeSH definition : A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491);

MeSH synonym : myokymia, continuous; isaacs mertens syndrome; continuous muscle activity syndrome; isaac syndrome; syndrome of continuous muscle activity; isaacs' syndrome; isaacs-mertens syndrome; continuous myokymia; isaacs pseudomyotonia syndrome; gamstorp-wohlfart syndrome; gamstorp wohlfart syndrome; pseudomyotonia syndrome of isaacs; quantal squander; continuous myokymias; myokymias, continuous; myokymia, myotonia, muscle wasting, and hyperhidrosis; Neuromyotonia;

CISMeF synonym : Isaacs-Mertens; Isaacs; Mertens; Isaacs Mertens; isaacs's syndrome; gamstorp-wohlfart syndromes; neuromyotonia; pseudomyotonia; syndromes, gamstorp-wohlfart; syndromes, isaacs-mertens;

MeSH hyponym : acquired neuromyotonia; Neuromyotonia, Acquired;

Wikipedia link : https://en.wikipedia.org/wiki/Isaacs syndrome;

Details

Origin ID

D020386;

UMLS CUI

C0242287;

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)
- Autosomal recessive axonal neuropathy with neuromyotonia (disorder) [SNOMED CT concept]
- Borries' syndrome (disorder) [SNOMED CT concept]
- Bruns' syndrome (disorder) [SNOMED CT concept]
- Capgras' syndrome [MedDRA LLT]
- Capgras' syndrome (finding) [SNOMED CT concept]
- Carotid artery insufficiency syndrome (disorder) [SNOMED CT concept]
- Crush syndrome (disorder) [SNOMED CT concept]
- Disease (disorder) [SNOMED CT concept]
- Edwards' syndrome [MedDRA LLT]
- Eosinophilic cellulitis (disorder) [SNOMED CT concept]
- Episodic ataxia, type 1 [OMIM Phenotype]
- Exudative retinopathy (disorder) [SNOMED CT concept]
- Fuchs' syndrome [MedDRA Preferred Term]
- Gamstorp-Wohlfart syndrome [DO Concept]
- Gamstorp-Wohlfart syndrome [ICD-11 More detail]
- Hereditary continuous muscle fiber activity [ORDO Disease]
- Isaac's syndrome [MedDRA LLT]
- Isaacs syndrome [MedDRA LLT]
- Jervis' syndrome (disorder) [SNOMED CT concept]
- Meigs Syndrome [NCIt concept]
- Meigs' syndrome [MedDRA Preferred Term]
- Meigs' syndrome (disorder) [SNOMED CT concept]
- Menkes' syndrome [MedDRA Preferred Term]
- Milles' syndrome [MedDRA LLT]
- Moebius II syndrome [MedDRA Preferred Term]
- Moyamoya disease (disorder) [SNOMED CT concept]
- Myotonic disorders [ICD-10 Sub-category]
- Myotonic disorders [ICD-10 Sub-category (who)]
- Neuromyotonia [ICD-11 Subcategory]
- Olivopontocerebellar degeneration (disorder) [SNOMED CT concept]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- Peripartum cardiomyopathy [ORDO Disease]
- Polypoid sinus degeneration (disorder) [SNOMED CT concept]
- Pseudomyotonia [ICD-11 Subcategory]
- Pseudomyotonia (finding) [SNOMED CT concept]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- Spens' syndrome [MedDRA LLT]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Syndrome [NCIt concept]
- Trisomy 18 [MedDRA Preferred Term]
- borries' syndrome [SNOMED Notion]
- bruns' syndrome [SNOMED Notion]
- capgras' syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
- episodic ataxia [DO Concept]
- four x syndrome [SNOMED Notion]
- jervis' syndrome [SNOMED Notion]
- meigs' syndrome [SNOMED Notion]
- sotos' syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Isaacs syndrome [ORDO Disease]
- Isaacs syndrome (disorder) [SNOMED CT concept]
- Neuromyotonia [MedDRA Preferred Term]
- isaacs syndrome [SNOMED Notion]
- neuromyotonia [Disease (Nov.)]
False UMLS correspondences (reviewed by CISMeF team)
- Neuromyotonia (disorder) [SNOMED CT concept]
False automatic mappings
- Neuromyotonia (disorder) [SNOMED CT concept]
- Neuromyotonia and axonal neuropathy, autosomal recessive [OMIM Phenotype]
Manual NTBT mappings (CISMeF)
- Autoimmune neurological channelopathy due to a potassium channel defect [ORDO Disease]
- Muscular channelopathy [ORDO Disease]
- Non-dystrophic myopathy [ORDO Disease]
Record concept(s)
- Pseudomyotonia [MeSH concept]
- acquired neuromyotonia [MeSH concept]
- isaacs syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive axonal neuropathy with neuromyotonia [ORDO Disease]
- Autosomal recessive axonal neuropathy with neuromyotonia (disorder) [SNOMED CT concept]
- Gamstorp-Wohlfart syndrome [DO Concept]
- Isaac's syndrome [MedDRA LLT]
- Isaacs Syndrome [NCIt concept]
- Isaacs syndrome [MedDRA LLT]
- Isaacs syndrome [ORDO Disease]
- Isaacs syndrome (disorder) [SNOMED CT concept]
- Neuromyotonia [MedDRA Preferred Term]
- Neuromyotonia and axonal neuropathy, autosomal recessive [OMIM Phenotype]
- isaacs syndrome [SNOMED Notion]
- neuromyotonia [Disease (Nov.)]

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