loading...| Preferred Name |
Butyrylcholinesterase deficiency |
| Synonyms |
Apnea, Postanesthetic |
| ID |
http://purl.bioontology.org/ontology/MESH/C537417 |
| altLabel |
Apnea, Postanesthetic Acylcholine acylhydrolase deficiency Suxamethonium Sensitivity Pseudocholinesterase deficiency Cholinesterase 2 Deficiency Succinylcholine Sensitivity Pseudocholinesterase E1 deficiency |
| cui |
C0268379 C1867468 C1283400 C1622434 |
| Has mapping qualifier | |
| HM |
D008661 D001049 D002091/Q000172 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D008661 |
| MDA |
20100825 |
| MeSH Frequency |
42 |
| MMR |
20150817 |
| notation |
C537417 |
| prefLabel |
Butyrylcholinesterase deficiency |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive condition caused by mutations in the BCHE gene. Affected individuals exhibit prolonged apnea after administration of the muscle relaxant SUXAMETHONIUM in connection with surgical ANESTHESIA. However,since the activity of pseudocholinesterase in serum is low and its substrate behavior is atypical, there are no other symptoms in the absence of relaxant. OMIM: 177400 |
| TERMUI |
T737353 T737352 T737354 T737356 T742531 T737351 T742530 T742527 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T046 T047 |