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Cell Culture Ontology
Preferred Name | butyrylcholinesterase deficiency | |
Synonyms |
succinylcholine sensitivity butyrylcholinesterase deficiency, fluoride-resistant, Japanese type pseudocholinesterase E1 apnea, postanesthetic pseudocholinesterase deficiency cholinesterase 2 deficiency Acholinesterasemia hypocholinesterasemia, fluoride-resistant, Japanese type Suxamethonium sensitivity BCHED butyrylcholinesterase deficiency apnea, postanesthetic, susceptibility to, due to BCHE deficiency |
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Definitions |
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0015270 |
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database_cross_reference |
MESH:C537417 ICD9:289.89 MEDGEN:220923 SCTID:191397007 UMLS:C1283400 OMIM:617936 Orphanet:132 icd11.foundation:581237559 GARD:7482
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definition |
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
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has_exact_synonym |
butyrylcholinesterase deficiency apnea, postanesthetic, susceptibility to, due to BCHE deficiency
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has_related_synonym |
succinylcholine sensitivity butyrylcholinesterase deficiency, fluoride-resistant, Japanese type pseudocholinesterase E1 apnea, postanesthetic pseudocholinesterase deficiency cholinesterase 2 deficiency Acholinesterasemia hypocholinesterasemia, fluoride-resistant, Japanese type Suxamethonium sensitivity BCHED
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IAO_0000233 | ||
id |
MONDO:0015270
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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label |
butyrylcholinesterase deficiency
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notation |
MONDO:0015270
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preferred label |
butyrylcholinesterase deficiency
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prefLabel |
butyrylcholinesterase deficiency
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skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/581237559 http://linkedlifedata.com/resource/umls/id/C1283400 http://identifiers.org/snomedct/191397007 http://purl.obolibrary.org/obo/Orphanet_132 |
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subClassOf |
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