Medullary Cystic Kidney Disease Type I

Preferred Label : Medullary Cystic Kidney Disease Type I;

NCIt related terms : Autosomal Dominant Interstitial Kidney Disease;

Alternative definition : NICHD: An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1.;

Details

Origin ID

C123171;

UMLS CUI

C4054549;

Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
related_to_genetic_biomarker
- MUC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients