hyperoxaluria, primary

Preferred Label : hyperoxaluria, primary;

Obsolete resource : false;

MeSH definition : A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.;

MeSH synonym : primary oxaluria; primary hyperoxaluria; primary oxalurias; oxaluria, primary; hyperoxalurias, primary; primary hyperoxalurias; oxalurias, primary;

Related MeSH term : primary oxalosis; Oxaloses, Primary; Oxalosis, Primary; Primary Oxaloses;

Wikipedia link : https://en.wikipedia.org/wiki/Hyperoxaluria, primary;

Details

Origin ID

D006960;

UMLS CUI

C0020501;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- D-glyceric aciduria [OMIM Phenotype]
- D-glyceric aciduria [ORDO Disease]
- Hyperoxaluria, primary [OMIM phenotypic series]
- Hyperoxaluria, primary, type I [OMIM Phenotype]
- Hyperoxaluria, primary, type II [OMIM Phenotype]
- Other specified disorders of carbohydrate metabolism [ICD-10 Sub-category]
- Oxalosis [PASCAL descriptor]
- Oxalosis [MedDRA Preferred Term]
- Oxalosis [ICD-11 More detail]
- Oxalosis (disorder) [SNOMED CT concept]
- Primary hyperoxaluria type 1 [ORDO Disease]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria, type II (disorder) [SNOMED CT concept]
- primary hyperoxaluria, type i [SNOMED Notion]
- primary hyperoxaluria, type ii [SNOMED Notion]
Currated CISMeF NLP mapping
- Primary Hyperoxaluria [NCIt concept]
- Primary hyperoxaluria [MedDRA Preferred Term]
- Primary hyperoxaluria [ORDO Disease]
- Primary hyperoxaluria (disorder) [SNOMED CT concept]
- primary hyperoxaluria [Disease (Nov.)]
- primary hyperoxaluria [DO Concept]
- primary hyperoxaluria, nos [SNOMED Notion]
DO Cross reference
- primary hyperoxaluria [DO Concept]
Manual BTNT mappings - CISMeF
- Primary hyperoxaluria type 3 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Record concept(s)
- hyperoxaluria, primary [MeSH concept]
- primary oxalosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- primary hyperoxaluria type 1 [MeSH Supplementary Concept]
- primary hyperoxaluria type 2 [MeSH Supplementary Concept]
See also
- oxalates [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Hyperoxaluria [NCIt concept]
- Primary hyperoxaluria [ORDO Disease]
- Primary hyperoxaluria [MedDRA Preferred Term]
- Primary hyperoxaluria (disorder) [SNOMED CT concept]
- primary hyperoxaluria [DO Concept]
- primary hyperoxaluria [Disease (Nov.)]
- primary hyperoxaluria, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Primary hyperoxaluria type 2 [ICD-11 More detail]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria, type I (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- hyperoxaluria [Disease (Nov.)]

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