Primary Hyperoxaluria Type I

Preferred Label : Primary Hyperoxaluria Type I;

NCIt definition : Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency.;

Details

Origin ID

C123212;

UMLS CUI

C0268164;

Currated CISMeF NLP mapping
- Hyperoxaluria, primary, type I [OMIM Phenotype]
- Primary hyperoxaluria, type I (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 1 [MeSH Supplementary Concept]
- primary hyperoxaluria, type i [SNOMED Notion]
DO Cross reference
- primary hyperoxaluria type 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperoxaluria, primary, type I [OMIM Phenotype]
- Primary hyperoxaluria type 1 [ORDO Disease]
- Primary hyperoxaluria type 1 [MeSH concept]
- Primary hyperoxaluria type 1 [ICD-11 Sub-sub category]
- Primary hyperoxaluria, type I (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 1 [MeSH Supplementary Concept]
- primary hyperoxaluria type 1 [DO Concept]
- primary hyperoxaluria type I [Disease (Nov.)]
- primary hyperoxaluria, type i [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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