dent disease - CISMeF

Preferred Label : dent disease;

MeSH definition : X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.;

MeSH synonym : disease, dent; dent's disease; disease, dent's; dents disease; disease, dents;

CISMeF synonym : Dent;

Details

Origin ID

D057973;

UMLS CUI

C0878681;

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)
- Bruxism [HPO term]
- Dent in Material [NCIt concept]
- Teeth [LOINC System]
- Teething Syndrome [NCIt concept]
- Teething syndrome [ICD-11 Sub-sub category]
- Teething syndrome (finding) [SNOMED CT concept]
- Tooth [LOINC System]
- Tooth disorder (disorder) [SNOMED CT concept]
- chloride voltage-gated channel 5 [HGNC gene]
- chloride voltage-gated channel 5 [ORDO Gene]
- disease of teeth, nos [SNOMED Notion]
- tooth disorders [MedlinePlus Topic]
- {Tooth} [LOINC System]
Currated CISMeF NLP mapping
- Dent Disease [NCIt concept]
- Dent disease [DO Concept]
- Dent disease [ICD-11 More detail]
- Dent disease [OMIM phenotypic series]
- Dent disease [ORDO Disease]
- Dent's disease [MedDRA Preferred Term]
- Dent's disease (disorder) [SNOMED CT concept]
- Dents disease [Disease (Nov.)]
DO Cross reference
- Dent disease [DO Concept]
Ne pas confondre avec
- tooth diseases [MeSH Descriptor]
ORDO relation(s)
- Dent disease [ORDO Disease]
Record concept(s)
- dent disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- low molecular weight proteinuria with hypercalciuria and nephrocalcinosis [MeSH Supplementary Concept]
See also
- bartter syndrome [MeSH Descriptor]
- fanconi syndrome [MeSH Descriptor]
- gitelman syndrome [MeSH Descriptor]
- oculocerebrorenal syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dent Disease [NCIt concept]
- Dent disease [ORDO Disease]
- Dent disease [DO Concept]
- Dent disease [ICD-11 More detail]
- Dent's disease [MedDRA Preferred Term]
- Dent's disease (disorder) [SNOMED CT concept]
- Dents disease [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

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