pyrroline-5-carboxylate reductase deficiency

Preferred Label : pyrroline-5-carboxylate reductase deficiency;

Origin ID

D6-A4120;

UMLS CUI

C2931835;

Automatic exact mappings (from CISMeF team)
- Deficiency of pyrroline-5-carboxylate reductase (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Disorders of glycine metabolism [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- pyrroline-5-carboxylate reductase [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of pyrroline-5-carboxylate reductase (disorder) [SNOMED CT concept]
- Hyperprolinaemia type II [MedDRA LLT]
- Hyperprolinemia type 2 [MeSH concept]
- Hyperprolinemia type 2 [ORDO Disease]
- Hyperprolinemia type 2 (disorder) [SNOMED CT concept]
- Hyperprolinemia type II [MedDRA LLT]
- Hyperprolinemia, type II [OMIM Phenotype]
- hyperprolinemia type 2 [MeSH Supplementary Concept]
- hyperprolinemia type II [Disease (Nov.)]