Butyrylcholinesterase

Preferred Label : Butyrylcholinesterase;

Obsolete resource : true;

Alternative titles and symbols : Bche; Pseudocholinesterase e1; Che1; Acylcholine acylhydrolasebutyrylcholinesterase deficiency; Acholinesterasemia; Suxamethonium sensitivity; Pseudocholinesterase deficiency; Apnea, postanesthetic; Butyrylcholinesterase deficiency, fluoride-resistant, japanese type; Hypocholinesterasemia, fluoride-resistant, japanese type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the butrylcholinesterase gene (bche, 177400.0001);

Details

Origin ID

177400;

UMLS CUI

C1412756;

Automatic exact mappings (from CISMeF team)
- AATF wt Allele [NCIt concept]
- BCHE Gene [NCIt concept]
- BCHE wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Butyrylcholinesterase deficiency [ICD-11 More detail]
- Butyrylcholinesterase deficiency [ORDO Disease]
- Butyrylcholinesterase deficiency [MeSH concept]
- Deficiency of butyrylcholine esterase (disorder) [SNOMED CT concept]
- butyrylcholinesterase [MeSH concept]
- butyrylcholinesterase deficiency [MeSH Supplementary Concept]
Matching ORDO disease(s)
- Butyrylcholinesterase deficiency [ORDO Disease]
NCIt concept(s)
- BCHE Gene [NCIt concept]
- BCHE wt Allele [NCIt concept]
- Cholinesterase [NCIt concept]
ORDO concept(s)
- butyrylcholinesterase [ORDO Gene]
See also inter- (CISMeF)
- Butyrylcholinesterase Measurement [NCIt concept]
- Cholinesterase [NCIt concept]
- butyrylcholinesterase [MeSH Descriptor]
- butyrylcholinesterase [ORDO Gene]
- butyrylcholinesterase deficiency, Fluoride-Resistant, japanese type [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BCHE Gene [NCIt concept]
- BCHE gene [LOINC component]
- butyrylcholinesterase [HGNC gene]
Validated automatic mappings to BTNT
- pseudocholinesterase deficiency [Disease (Nov.)]

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