Preferred Label : Isolated mitochondrial respiratory chain complex IV deficiency;
ICD-11 definition : This refers to isolated coupled electron transfer between an electron donor (such
as NADH) and an electron acceptor (such as O2) with the transfer of H ions (protons)
across a membrane. This diagnosis is with deficiency in Complex IV, with four electrons
being removed from four molecules of cytochrome c and transferred to molecular oxygen
(O2), producing two molecules of water.;
ICD-11 synonym : Cytochrome C oxidase deficiency;
Origin ID : 1247726031;
Automatic exact mappings (from CISMeF team)
- Validated automatic mappings to NTBT
This refers to isolated coupled electron transfer between an electron donor (such
as NADH) and an electron acceptor (such as O2) with the transfer of H ions (protons)
across a membrane. This diagnosis is with deficiency in Complex IV, with four electrons
being removed from four molecules of cytochrome c and transferred to molecular oxygen
(O2), producing two molecules of water.
