Primary hyperoxaluria type 1

ICD-11 code : 5C51.20;

Preferred Label : Primary hyperoxaluria type 1;

ICD-11 definition : Primary hyperoxaluria type 1 is a rare metabolic disorder due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). The infantile form is characterized by chronic renal failure due to massive oxalate deposition. In other patients, urolithiasis develops with infections, hematuria, renal colics or acute renal failure due to complete obstruction. End-stage renal failure occurs before 15 years of age in half the cases and the resulting increase of circulating oxalate leads to its deposition in tissues causing cardiac conduction defects, hypertension, distal gangrene, and reduced joint mobility and pain.;

ICD-11 synonym : Alanine-glyoxylate aminotransferase deficiency; Oxalosis type 1; 2-oxoglutarate glyoxylate carboligase deficiency;

Details

Origin ID

692812009;

UMLS CUI

C0268164;

Automatic exact mappings (from CISMeF team)
- alanine--glyoxylate aminotransferase [HGNC gene]
- primary hyperoxaluria type 1 [DO Concept]
Currated CISMeF NLP mapping
- Hyperoxaluria, primary, type I [OMIM Phenotype]
- Primary hyperoxaluria type 1 [ORDO Disease]
- Primary hyperoxaluria type 1 [MeSH concept]
- Primary hyperoxaluria, type I (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 1 [MeSH Supplementary Concept]
- primary hyperoxaluria type I [Disease (Nov.)]
- primary hyperoxaluria, type i [SNOMED Notion]
ICD-10 Mapping
- Other disorders of carbohydrate metabolism [ICD-10 category]
See also inter- (CISMeF)
- alanine--glyoxylate aminotransferase [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperoxaluria, primary, type I [OMIM Phenotype]
- Primary Hyperoxaluria Type I [NCIt concept]
- Primary hyperoxaluria type 1 [MeSH concept]
- Primary hyperoxaluria type 1 [ORDO Disease]
- 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]
Validated automatic mappings to NTBT
- Carbohydrate Metabolism Disorder [NCIt concept]
- Carbohydrate metabolism disorder [MedDRA Preferred Term]
- Disorder of carbohydrate metabolism [ORDO Disease]
- carbohydrate metabolic disorder [DO Concept]
- disorder of carbohydrate metabolism, nos [SNOMED Notion]
- disorders of carbohydrate metabolism [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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