saccharopinuria

Preferred Label : saccharopinuria;

MeSH synonym : alpha-aminoadipic semialdehyde synthase deficiency; saccharopine dehydrogenase deficiency;

Origin ID

C537218;

UMLS CUI

C2936921;

Automatic exact mappings (from CISMeF team)
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category (who)]
- Hyperlysinemia (disorder) [SNOMED CT concept]
- Hyperlysinemia, type I [OMIM Phenotype]
Currated CISMeF NLP mapping
- Hyperlysinaemia type 2 [ICD-11 More detail]
- Saccharopinuria [OMIM Phenotype]
- Saccharopinuria [ORDO Disease]
- Saccharopinuria (disorder) [SNOMED CT concept]
- saccharopinuria [SNOMED Notion]
MeSH term(s) associated for indexing
- hyperlysinemias [MeSH Descriptor]
- saccharopine dehydrogenases [MeSH Descriptor]
ORDO relation(s)
- Saccharopinuria [ORDO Disease]
Record concept(s)
- Saccharopinuria [MeSH concept]
See also (suggested by CISMeF)
- saccharopine dehydrogenases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]