Nephronophthisis

Preferred Label : Nephronophthisis;

Alternative definition : NICHD: Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.;

Details

Origin ID

C123200;

UMLS CUI

C0687120;

Currated CISMeF NLP mapping
- Nephronophthisis [HPO term]
- Nephronophthisis [MedDRA LLT]
- Nephronophthisis [ORDO Disease]
- Nephronophthisis [ICD-11 Category]
- Nephronophthisis [OMIM phenotypic series]
- Nephronophthisis (disorder) [SNOMED CT concept]
- nephronophthisis [DO Concept]
- nephronophthisis [Disease (Nov.)]
DO Cross reference
- nephronophthisis [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephronophthisis [ORDO Disease]
- Nephronophthisis [HPO term]
- Nephronophthisis [MedDRA LLT]
- Nephronophthisis (disorder) [SNOMED CT concept]
- medullary cystic disease of the kidney [SNOMED Notion]
- nephronophthisis [DO Concept]
- nephronophthisis [Disease (Nov.)]
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]

Keyword's position in hierarchy(ies) :

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