5-oxoprolinase deficiency

Preferred Label : 5-oxoprolinase deficiency;

MeSH synonym : oxoprolinuria due to 5-oxoprolinase deficiency; 5-alpha-oxoprolinase deficiency; oxoprolinuria due to oxoprolinase deficiency;

Details

Origin ID

C535322;

UMLS CUI

C0268525;

Currated CISMeF NLP mapping
- 5-Oxoprolinase deficiency (disorder) [SNOMED CT concept]
- 5-oxoprolinase deficiency [SNOMED Notion]
- 5-oxoprolinase deficiency [OMIM Phenotype]
- 5-oxoprolinase deficiency [ORDO Disease]
- Oxoprolinuria [ICD-11 More detail]
- Reduced 5-oxoprolinase level [HPO term]
HPO term
- Reduced 5-oxoprolinase level [HPO term]
Manual NTBT mappings (CISMeF)
- oxoprolinuria [Disease (Nov.)]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- pyroglutamate hydrolase [MeSH Descriptor]
ORDO relation(s)
- 5-oxoprolinase deficiency [ORDO Disease]
Record concept(s)
- 5-oxoprolinase deficiency [MeSH concept]
See also (suggested by CISMeF)
- pyrrolidonecarboxylic acid [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5-Oxoprolinase deficiency (disorder) [SNOMED CT concept]
- 5-oxoprolinase deficiency [ORDO Disease]
- 5-oxoprolinase deficiency [SNOMED Notion]
- 5-oxoprolinase deficiency [OMIM Phenotype]
- Oxoprolinuria [ICD-11 More detail]
- Reduced 5-oxoprolinase level [HPO term]

Keyword's position in hierarchy(ies) :

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