Autosomal Recessive Polycystic Kidney Disease

Preferred Label : Autosomal Recessive Polycystic Kidney Disease;

NCIt synonyms : Autosomal Recessive Polycystic Kidney;

NCIt related terms : Polycystic Kidney Disease, Infantile Type;

NCIt definition : Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6.;

Alternative definition : NICHD: Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease.;

Details

Origin ID

C84579;

UMLS CUI

C0085548;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive polycystic kidney disease [ICD-11 More detail]
- Polycystic kidney, autosomal recessive [ICD-9 code]
Currated CISMeF NLP mapping
- Autosomal recessive polycystic kidney disease [ORDO Disease]
- Polycystic kidney disease 4 with or without polycystic liver disease [OMIM Phenotype]
- Polycystic kidney disease, infantile type (disorder) [SNOMED CT concept]
- Polycystic kidney, autosomal recessive [MedDRA LLT]
- Polycystic kidney, infantile type [ICD-10 Sub-category]
- Polycystic kidney, infantile type [ICD-10 Sub-category (who)]
- autosomal recessive polycystic kidney disease [DO Concept]
- autosomal recessive polycystic kidney disease [Disease (Nov.)]
- polycystic kidney disease, infantile type [SNOMED Notion]
- polycystic kidney, autosomal recessive [MeSH Descriptor]
- polycystic kidney, autosomal recessive [MeSH concept]
DO Cross reference
- autosomal recessive polycystic kidney disease [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)
- Autosomal recessive polycystic kidney disease [ORDO Disease]
- Polycystic kidney disease 4 with or without polycystic liver disease [OMIM Phenotype]
- Polycystic kidney disease, infantile type (disorder) [SNOMED CT concept]
- Polycystic kidney, autosomal recessive [MedDRA LLT]
- Polycystic kidney, autosomal recessive [ICD-9 code]
- Polycystic kidney, infantile type [ICD-10 Sub-category]
- autosomal recessive polycystic kidney disease [DO Concept]
- autosomal recessive polycystic kidney disease [Disease (Nov.)]
- polycystic kidney disease, infantile type [SNOMED Notion]
- polycystic kidney, autosomal recessive [MeSH concept]
- polycystic kidney, autosomal recessive [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network 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
- PKHD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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