Preferred Label : Hyperlysinaemia;
ICD-11 definition : Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of
lysine in the cerebrospinal fluid and blood that is not associated with a clinical
phenotype, although it was sometimes believed to present with neurological problems
and intellectual deficit.;
ICD-11 synonym : Lysine alpha-ketoglutarate reductase deficiency; Alpha-aminoadipic semialdehyde deficiency;
Origin ID : 1082131329;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of
lysine in the cerebrospinal fluid and blood that is not associated with a clinical
phenotype, although it was sometimes believed to present with neurological problems
and intellectual deficit.
