Butyrylcholinesterase deficiency

Preferred Label : Butyrylcholinesterase deficiency;

Symbol : BCHED;

CISMeF acronym : BCHED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pseudocholinesterase deficiency; ACHOLINESTERASEMIA;

Included titles and symbols : Suxamethonium sensitivity; Apnea, postanesthetic; Butyrylcholinesterase deficiency, fluoride-resistant, japanese type; Hypocholinesterasemia, fluoride-resistant, japanese type;

Prefixed ID : #617936;

Details

Origin ID

617936;

UMLS CUI

C1283400;

Automatic exact mappings (from CISMeF team)
- Deficiency of butyrylcholinesterase (disorder) [SNOMED CT concept]
- Pseudocholinesterase deficiency [MedDRA Preferred Term]
- Pseudocholinesterase deficiency [MeSH concept]
- Pseudocholinesterase deficiency (disorder) [SNOMED CT concept]
- Succinylcholine sensitivity (finding) [SNOMED CT concept]
- acholinesterasemia [MeSH Supplementary Concept]
- acholinesterasemia [MeSH concept]
- apnea, postanesthetic [MeSH concept]
- butyrylcholinesterase deficiency, Fluoride-Resistant, japanese type [MeSH Supplementary Concept]
- butyrylcholinesterase deficiency, Fluoride-Resistant, japanese type [MeSH concept]
- hypocholinesterasemia, Fluoride-Resistant, japanese type [MeSH concept]
Currated CISMeF NLP mapping
- Butyrylcholinesterase deficiency [ORDO Disease]
- Butyrylcholinesterase deficiency [MeSH concept]
- Butyrylcholinesterase deficiency [ICD-11 More detail]
- Deficiency of butyrylcholine esterase (disorder) [SNOMED CT concept]
- butyrylcholinesterase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Butyrylcholinesterase [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Butyrylcholinesterase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Butyrylcholinesterase deficiency [MeSH concept]
- Butyrylcholinesterase deficiency [ORDO Disease]
- Deficiency of benzoylcholinesterase (disorder) [SNOMED CT concept]
- Deficiency of butyrylcholine esterase (disorder) [SNOMED CT concept]
- Deficiency of butyrylcholinesterase (disorder) [SNOMED CT concept]
- Pseudocholinesterase deficiency (disorder) [SNOMED CT concept]
- butyrylcholinesterase deficiency [MeSH Supplementary Concept]

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