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Metadata
ID DOID:8545
Name malignant hyperthermia
Definition A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).
http://en.wikipedia.org/wiki/Malignant_hyperthermia
Xrefs

GARD:6964

ICD10CM:T88.3

ICD9CM:995.86

MESH:D008305

NCI:C84869

OMIM:PS145600

ORDO:423

SNOMEDCT_US_2023_03_01:111738008

UMLS_CUI:C0024591

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

anesthesia related hyperthermia [EXACT]

malignant hyperpyrexia due to anesthesia [EXACT]

Parent Relationships

is_a muscle tissue disease

is_a autosomal dominant disease

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