Oxoprolinuria - CISMeF

Preferred Label : Oxoprolinuria;

ICD-11 definition : 5-Oxoprolinase deficiency is a clinically heterogeneous disorder of the gamma-glutamyl cycle characterized by 5-oxoprolinuria. Manifestations can include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.;

ICD-11 synonym : 5-oxoprolinase deficiency;

Détails

Origin ID

589223356;

UMLS CUI

C0268525;

Currated CISMeF NLP mapping
- 5-Oxoprolinase deficiency (disorder) [SNOMED CT concept]
- 5-oxoprolinase deficiency [SNOMED Notion]
- 5-oxoprolinase deficiency [MeSH Supplementary Concept]
- 5-oxoprolinase deficiency [OMIM Phenotype]
- 5-oxoprolinase deficiency [MeSH concept]
- 5-oxoprolinase deficiency [ORDO Disease]
- Reduced 5-oxoprolinase level [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5-Oxoprolinase deficiency (disorder) [SNOMED CT concept]
- 5-oxoprolinase deficiency [OMIM Phenotype]
- 5-oxoprolinase deficiency [MeSH concept]
- 5-oxoprolinase deficiency [MeSH Supplementary Concept]
- 5-oxoprolinase deficiency [ORDO Disease]
- 5-oxoprolinase deficiency [SNOMED Notion]
- Reduced 5-oxoprolinase level [HPO term]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients