Primary hyperoxaluria type 2

Preferred Label : Primary hyperoxaluria type 2;

ICD-11 definition : Primary hyperoxaluria type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase. It is characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.;

ICD-11 synonym : Oxalosis type 2; D-glycerate dehydrogenase deficiency; Hydroxypyruvate reductase deficiency;

Details

Origin ID

347920969;

UMLS CUI

C0268165;

Currated CISMeF NLP mapping
- Hyperoxaluria, primary, type II [OMIM Phenotype]
- Primary Hyperoxaluria Type II [NCIt concept]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria type 2 [MeSH concept]
- Primary hyperoxaluria, type II (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 2 [MeSH Supplementary Concept]
- primary hyperoxaluria type II [Disease (Nov.)]
- primary hyperoxaluria, type ii [SNOMED Notion]
See also inter- (CISMeF)
- glyoxylate and hydroxypyruvate reductase [ORDO Gene]
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 [MeSH concept]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria, type II (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 2 [MeSH Supplementary Concept]
- primary hyperoxaluria type 2 [DO Concept]
- primary hyperoxaluria type II [Disease (Nov.)]
- primary hyperoxaluria, type ii [SNOMED Notion]
Validated automatic mappings to NTBT
- hyperoxaluria, primary [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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