hyperprolinemia type 2

Preferred Label : hyperprolinemia type 2;

MeSH synonym : 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency; type 2 hyperprolinemia; hyperprolinemia, type II; 1-Pyrroline-5-Carboxylate dehydrogenase deficiency; Pyrroline-5-Carboxylate Dehydrogenase Deficiency; Pyrroline Carboxylate Dehydrogenase Deficiency;

Details

Origin ID

C538385;

UMLS CUI

C2931835;

Automatic exact mappings (from CISMeF team)
- Hyperprolinaemia type 2 [ICD-11 More detail]
- hyperprolinemia type 2 [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of pyrroline-5-carboxylate reductase (disorder) [SNOMED CT concept]
- Hyperprolinaemia type II [MedDRA LLT]
- Hyperprolinemia type 2 [ORDO Disease]
- Hyperprolinemia type 2 (disorder) [SNOMED CT concept]
- Hyperprolinemia type II [MedDRA LLT]
- Hyperprolinemia, type II [OMIM Phenotype]
- hyperprolinemia type II [Disease (Nov.)]
MeSH term(s) associated for indexing
- 1-pyrroline-5-carboxylate dehydrogenase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Hyperprolinemia type 2 [ORDO Disease]
Record concept(s)
- Hyperprolinemia type 2 [MeSH concept]
See also (suggested by CISMeF)
- 1-pyrroline-5-carboxylate dehydrogenase [MeSH Descriptor]
- proline [MeSH Descriptor]
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 [ORDO Disease]
- Hyperprolinemia type 2 (disorder) [SNOMED CT concept]
- Hyperprolinemia type II [MedDRA LLT]
- Hyperprolinemia, type II [OMIM Phenotype]
- hyperprolinemia type II [Disease (Nov.)]
- pyrroline-5-carboxylate reductase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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