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Mondo Disease Ontology
| Preferred Name | butyrylcholinesterase deficiency | |
| Synonyms |
pseudocholinesterase deficiency pseudocholinesterase E1 cholinesterase 2 deficiency Suxamethonium sensitivity apnea, postanesthetic butyrylcholinesterase deficiency, fluoride-resistant, Japanese type succinylcholine sensitivity hypocholinesterasemia, fluoride-resistant, Japanese type Acholinesterasemia 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 |
ICD9:289.89 MESH:C537417 MEDGEN:220923 icd11.foundation:581237559 Orphanet:132 UMLS:C1283400 OMIM:617936 SCTID:191397007 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 |
pseudocholinesterase deficiency pseudocholinesterase E1 cholinesterase 2 deficiency Suxamethonium sensitivity apnea, postanesthetic butyrylcholinesterase deficiency, fluoride-resistant, Japanese type succinylcholine sensitivity hypocholinesterasemia, fluoride-resistant, Japanese type Acholinesterasemia BCHED
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| IAO_0000233 | ||
| id |
MONDO:0015270
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
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| label |
butyrylcholinesterase deficiency
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| notation |
MONDO:0015270
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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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