primary hyperoxaluria type 1

Preferred Label : primary hyperoxaluria type 1;

MeSH synonym : peroxisomal alanine glyoxylate aminotransferase deficiency; oxalosis 1; alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; hepatic AGT deficiency; oxalosis I; peroxisomal Alanine:Glyoxylate aminotransferase deficiency; Serine:Pyruvate aminotransferase deficiency; hyperoxaluria, primary, type I;

Details

Origin ID

C536414;

UMLS CUI

C0268164;

Automatic exact mappings (from CISMeF team)
- alanine--glyoxylate aminotransferase [ORDO Gene]
- alanine--glyoxylate aminotransferase [HGNC gene]
- primary hyperoxaluria type 1 [DO Concept]
CISMeF manual mappings
- Primary hyperoxaluria type 1 [ORDO Disease]
- primary hyperoxaluria, type i [SNOMED Notion]
Currated CISMeF NLP mapping
- Disorder of carbohydrate metabolism (disorder) [SNOMED CT concept]
- Hyperoxaluria, primary, type I [OMIM Phenotype]
- Primary Hyperoxaluria Type I [NCIt concept]
- Primary hyperoxaluria type 1 [ICD-11 Sub-sub category]
- Primary hyperoxaluria, type I (disorder) [SNOMED CT concept]
- primary hyperoxaluria type I [Disease (Nov.)]
DO Cross reference
- primary hyperoxaluria type 1 [DO Concept]
MeSH term(s) associated for indexing
- hyperoxaluria, primary [MeSH Descriptor]
ORDO relation(s)
- Primary hyperoxaluria type 1 [ORDO Disease]
Record concept(s)
- Primary hyperoxaluria type 1 [MeSH concept]
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 [ORDO Disease]
- Primary hyperoxaluria type 1 [ICD-11 Sub-sub category]
- Primary hyperoxaluria, type I (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 1 [DO Concept]
- primary hyperoxaluria type I [Disease (Nov.)]
- primary hyperoxaluria, type i [SNOMED Notion]

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