About: Polycystic Kidney Disease

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Polycystic Kidney Disease
rdfs:subClassOf	Kidney Diseases, Cystic
Has_NICHD_Parent	Kidney Diseases
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Polycystic Kidney Disease
UMLS_CUI	C0022680
Contributing_Source	NICHD
Legacy_Concept_Name	Polycystic_Kidney_Disease
FULL_SYN	Polycystic Kidney DiseasePTNCI Fibrocystic Renal DiseasePTNICHD PKD - Polycystic Kidney DiseaseSYNCI
DEFINITION	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.NCI
code	C75464
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0012031
is rdfs:subClassOf of	Microcystic Renal Disease Polycystic Kidney, Autosomal Dominant Polycystic Kidney, Autosomal Recessive
is someValuesFrom of	nodeID://b690023 nodeID://b699688 nodeID://b703649
is Has_NICHD_Parent of	Polycystic Kidney, Autosomal Recessive
is sameAs of	Polycystic Kidney Diseases

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