Preferred Label : paralysis, hyperkalemic periodic;
MeSH definition : An autosomal dominant familial disorder which presents in infancy or childhood and
is characterized by episodes of weakness associated with hyperkalemia. During attacks,
muscles of the lower extremities are initially affected, followed by the lower trunk
and arms. Episodes last from 15-60 minutes and typically occur after a period of rest
following exercise. A defect in skeletal muscle sodium channels has been identified
as the cause of this condition. Normokalemic periodic paralysis is a closely related
disorder marked by a lack of alterations in potassium levels during attacks of weakness.
(Adams et al., Principles of Neurology, 6th ed, p1481);
MeSH synonym : primary hyperkalemic periodic paralysis; paralysis, periodic, hyperkalemic, familial; myotonic periodic paralysis; hyperkalemic periodic paralysis, familial; hyperkalemic periodic paralysis; adynamia episodica hereditaria; familial hyperkalemic periodic paralysis; gamstorp disease; disease, gamstorp; gamstorp episodic adynamy; sodium channel muscle disease; adynamia episodica hereditaria with or without myotonia; HyperKPP; HyperPP;
CISMeF synonym : periodic paralysis - hypokalemic; adynamy, gamstorp episodic; episodic adynamy, gamstorp; hyperkalemic periodic paralyses; myotonic periodic paralyses; paralyses, hyperkalemic periodic; paralyses, myotonic periodic; paralysis, myotonic periodic; periodic paralyses, hyperkalemic; periodic paralyses, myotonic; periodic paralysis, hyperkalemic; periodic paralysis, myotonic;
Related MeSH term : hyperkalemic periodic paralysis type 2; Hyperkaliemic Periodic Paralysis Type 2;
Wikipedia link : https://en.wikipedia.org/wiki/Hyperkalemic periodic paralysis;
Origin ID : D020513;
UMLS CUI : C0238357;
Allowable qualifiers
Currated CISMeF NLP mapping
DO Cross reference
HPO term
Indexing information
Manual NTBT mappings (CISMeF)
ORDO relation(s)
Record concept(s)
See also
Semantic type(s)
UMLS correspondences (same concept)
An autosomal dominant familial disorder which presents in infancy or childhood and
is characterized by episodes of weakness associated with hyperkalemia. During attacks,
muscles of the lower extremities are initially affected, followed by the lower trunk
and arms. Episodes last from 15-60 minutes and typically occur after a period of rest
following exercise. A defect in skeletal muscle sodium channels has been identified
as the cause of this condition. Normokalemic periodic paralysis is a closely related
disorder marked by a lack of alterations in potassium levels during attacks of weakness.
(Adams et al., Principles of Neurology, 6th ed, p1481)
https://www.has-sante.fr/jcms/p_3488348/fr/developpement-d-un-indicateur-de-resultats-en-obstetrique-mesurant-les-hemorragies-du-post-partum-hpp-a-partir-du-pmsi
2024
France
technical report
resulting in
Maturation
Outcome Assessment, Health Care
SPTA1 wt Allele
weights and measures
obstetrics
paralysis, hyperkalemic periodic
indication of
postpartum hemorrhage, nos
Study Outcome Measure Description
hemorrhage
postpartum hemorrhage
Observational Study Sampling Method
Study Outcome Measurement
Indicator
Development Batch
HPP1 Gene
measures
allopurinol
Development Lot
suggestive of
Hemorrhage
outcome measures
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https://www.rp2s.fr/wp-content/uploads/2024_HPP-voie-basse.pdf
2024
France
algorithms
Hemorrhage
allopurinol
Cellular Morphology
HPP1 Gene
Route of Administration
SPTA1 wt Allele
CDISC SDTM Route of Administration Terminology
Basolateral Sorting Signal
paralysis, hyperkalemic periodic
Algorithm
postpartum hemorrhage, nos
hemorrhage
postpartum hemorrhage
Sontuzumab
algorithms
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=682
2010
false
France
French
paralysis, hyperkalemic periodic
paralysis, hyperkalemic periodic
rare diseases
scientific and technical information
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