andersen syndrome

Preferred Label : andersen syndrome;

MeSH definition : A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.;

MeSH synonym : syndrome, andersen; long qt syndrome 7; Potassium-Sensitive periodic paralysis, ventricular ectopy, and dysmorphic features; periodic paralysis, Potassium-Sensitive cardiodysrhythmic type; periodic paralysis, potassium sensitive cardiodysrhythmic type; andersen cardiodysrythmic periodic paralysis; andersen tawil syndrome; syndrome, andersen tawil; andersen cardiodysrhythmic periodic paralysis; Andersen-Tawil syndrome;

CISMeF synonym : Andersen; andersen's syndrome;

MeSH annotation : do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV;

Details

Origin ID

D050030;

UMLS CUI

C1563715;

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]
Currated CISMeF NLP mapping
- Andersen Tawil syndrome (disorder) [SNOMED CT concept]
- Andersen cardiodysrhythmic periodic paralysis [OMIM Phenotype]
- Andersen-Tawil syndrome [DO Concept]
- Andersen-Tawil syndrome [MedDRA Preferred Term]
- Andersen-Tawil syndrome [ORDO Disease]
- Long QT Syndrome 7 [NCIt concept]
- Long QT syndrome 7 [MedDRA LLT]
- Long QT syndrome type 7 [ICD-11 More detail]
- long QT syndrome type 7 [Disease (Nov.)]
DO Cross reference
- Andersen-Tawil syndrome [DO Concept]
Indexing information
- KCNJ2 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Channelopathy due to an inwardly rectifying potassium channel defect [ORDO Disease]
- Muscular channelopathy [ORDO Disease]
- Neurological muscular channelopathy due to a genetic potassium channel defect [ORDO Disease]
Record concept(s)
- andersen syndrome [MeSH concept]
See also
- pierre robin syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Andersen Tawil syndrome (disorder) [SNOMED CT concept]
- Andersen cardiodysrhythmic periodic paralysis [OMIM Phenotype]
- Andersen-Tawil syndrome [ORDO Disease]
- Andersen-Tawil syndrome [DO Concept]
- Andersen-Tawil syndrome [MedDRA Preferred Term]
- Long QT Syndrome 7 [NCIt concept]
- Long QT syndrome 7 [MedDRA LLT]
- long QT syndrome type 7 [Disease (Nov.)]

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