| Preferred Name |
malignant hyperthermia |
| Synonyms |
malignant hyperpyrexia due to anesthesia |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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). |
| ID |
http://purl.obolibrary.org/obo/DOID_8545 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MESH:D008305 ORDO:423 SNOMEDCT_US_2022_09_01:111738008 UMLS_CUI:C0024591 ICD9CM:995.86 OMIM:PS145600 ICD10CM:T88.3 NCI:C84869 GARD:6964 |
| 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). |
| has exact synonym |
malignant hyperpyrexia due to anesthesia anesthesia related hyperthermia |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:8545 |
| in_subset | |
| label |
malignant hyperthermia |
| notation |
DOID:8545 |
| prefLabel |
malignant hyperthermia |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/MTHU023121 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D008305 | Medical Subject Headings | LOOM |