Autosomal Dominant Polycystic Kidney Disease Type I

Preferred Label : Autosomal Dominant Polycystic Kidney Disease Type I;

Alternative definition : NICHD: Autosomal dominant polycystic kidney disease caused by a mutation in PKD1.;

Details

Origin ID

C123167;

UMLS CUI

C0887850;

Automatic exact mappings (from CISMeF team)
- polycystic kidney, autosomal dominant [MeSH Descriptor]
Currated CISMeF NLP mapping
- polycystic kidney, type 1 autosomal dominant disease [MeSH concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
See also inter- (CISMeF)
- Polycystic liver disease 1 with or without kidney cysts [OMIM Phenotype]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult type polycystic kidney disease type 1 (disorder) [SNOMED CT concept]
- Polycystic liver disease 1 with or without kidney cysts [OMIM Phenotype]
- polycystic kidney, type 1 autosomal dominant disease [MeSH concept]
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
- PKD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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