Dent disease - CISMeF

Preferred Label : Dent disease;

ICD-11 definition : Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria and hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.;

Details

Origin ID

1762998355;

UMLS CUI

C0878681;

Automatic exact mappings (from CISMeF team)
- Tooth disorder (disorder) [SNOMED CT concept]
- chloride voltage-gated channel 5 [HGNC gene]
- dens in dente [MeSH Descriptor]
Currated CISMeF NLP mapping
- Dent Disease [NCIt concept]
- Dent disease [DO Concept]
- Dent disease [ORDO Disease]
- Dent's disease [MedDRA Preferred Term]
- Dent's disease (disorder) [SNOMED CT concept]
- Dents disease [Disease (Nov.)]
- dent disease [MeSH Descriptor]
- dent disease [MeSH concept]
False automatic mappings
- Dent disease [OMIM phenotypic series]
- disease of teeth, nos [SNOMED Notion]
- tooth diseases [MeSH concept]
- tooth diseases [MeSH Descriptor]
- tooth disorders [MedlinePlus Topic]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dent Disease [NCIt concept]
- Dent disease [DO Concept]
- Dent disease [ORDO Disease]
- Dent's disease [MedDRA Preferred Term]
- Dent's disease (disorder) [SNOMED CT concept]
- Dents disease [Disease (Nov.)]
- dent disease [MeSH Descriptor]
- dent disease [MeSH concept]

Keyword's position in hierarchy(ies) :

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