Cell Culture Ontology

Last uploaded: July 23, 2014
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

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.

ID

http://purl.obolibrary.org/obo/MONDO_0015270

database_cross_reference

MESH:C537417

ICD9:289.89

MEDGEN:220923

SCTID:191397007

UMLS:C1283400

OMIM:617936

Orphanet:132

icd11.foundation:581237559

GARD:7482

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.

has_exact_synonym

butyrylcholinesterase deficiency

apnea, postanesthetic, susceptibility to, due to BCHE deficiency

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

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0015270

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

label

butyrylcholinesterase deficiency

notation

MONDO:0015270

preferred label

butyrylcholinesterase deficiency

prefLabel

butyrylcholinesterase deficiency

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

https://omim.org/entry/617936

http://identifiers.org/medgen/220923

http://identifiers.org/mesh/C537417

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019253

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