Primary Hyperoxaluria Type II

Preferred Label : Primary Hyperoxaluria Type II;

Alternative definition : NICHD: Recessively inherited primary hyperoxaluria due to glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency.;

Details

Origin ID

C123213;

UMLS CUI

C0268165;

Currated CISMeF NLP mapping
- Hyperoxaluria, primary, type II [OMIM Phenotype]
- Primary hyperoxaluria type 2 [ICD-11 More detail]
- Primary hyperoxaluria type 2 [ORDO Disease]
- 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]
DO Cross reference
- primary hyperoxaluria type 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperoxaluria, primary, type II [OMIM Phenotype]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria type 2 [MeSH concept]
- Primary hyperoxaluria type 2 [ICD-11 More detail]
- 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]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_mapped_to_gene
- GRHPR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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