360619001: Deficiency of butyrylcholinesterase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of butyrylcholinesterase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3788057011 Deficiency of butyrylcholinesterase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3788058018 Deficiency of butyrylcholinesterase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3983229010 Deficiency of butyrylcholine esterase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5287852013 Deficiency of benzoylcholinesterase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5226321000241114 déficit en butyrylcholinestérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3447191001000111 Butyrylcholinesterase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of butyrylcholinesterase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of butyrylcholinesterase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of butyrylcholinesterase deficiency	Associated finding	True	Deficiency of butyrylcholinesterase (disorder)	Inferred relationship	Some	1
A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. It is caused by mutations in the BCHE located on chromosome 3 (3q26.1-3q26.2) and multiple atypical variants have been identified. The condition is transmitted as an autosomal recessive trait.	Due to	True	Deficiency of butyrylcholinesterase (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets