primary hyperoxaluria type 2

Preferred Label : primary hyperoxaluria type 2;

CISMeF synonym : glyoxylate reductase/hydroxypyruvate reductase deficiency;

MeSH synonym : oxalosis 2; D-glycerate dehydrogenase deficiency; glyceric aciduria; oxalosis II; hyperoxaluria, primary, type II; Glyoxylate reductase-hydroxypyruvate reductase deficiency;

Details

Origin ID

C536415;

UMLS CUI

C0268165;

Automatic exact mappings (from CISMeF team)
- D-glyceric aciduria [OMIM Phenotype]
- D-glyceric aciduria [ORDO Disease]
- glyoxylate and hydroxypyruvate reductase [ORDO Gene]
- glyoxylate and hydroxypyruvate reductase [HGNC gene]
- primary hyperoxaluria type 2 [DO Concept]
CISMeF manual mappings
- Primary hyperoxaluria type 2 [ORDO Disease]
- primary hyperoxaluria, type ii [SNOMED Notion]
Currated CISMeF NLP mapping
- Hyperoxaluria, primary, type II [OMIM Phenotype]
- Primary Hyperoxaluria Type II [NCIt concept]
- Primary hyperoxaluria type 2 [ICD-11 More detail]
- Primary hyperoxaluria, type II (disorder) [SNOMED CT concept]
- primary hyperoxaluria type II [Disease (Nov.)]
DO Cross reference
- primary hyperoxaluria type 2 [DO Concept]
MeSH term(s) associated for indexing
- hyperoxaluria, primary [MeSH Descriptor]
Record concept(s)
- Primary hyperoxaluria type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperoxaluria, primary, type II [OMIM Phenotype]
- Primary Hyperoxaluria Type II [NCIt concept]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria type 2 [ICD-11 More detail]
- Primary hyperoxaluria, type II (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 2 [DO Concept]
- primary hyperoxaluria type II [Disease (Nov.)]
- primary hyperoxaluria, type ii [SNOMED Notion]

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