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Polycystic Kidney Diseases (CUI C0022680) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0022680

NCI Thesaurus Code: C75464  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt 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.

GARD Definition: Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms.

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance:

(1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause.

(2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood. - this information is from GARD/ORDR/NCATS.

HPO Definition: The presence of multiple cysts in both kidneys. [HPO:probinson]

NICHD Definition: An inherited form of kidney disease characterized by multiple renal cysts.

CSP Definition: hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed cysts within the kidney; there is an autosomal recessive form appearing in childhood and a later appearing autosomal dominant form; a similar acquired disease sometimes accompanies end-stage renal disease.

MSH Definition: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.

Synonyms & Abbreviations: (see Synonym Details)
Disease, Polycystic Kidney
Disease, Polycystic Renal
Diseases, Polycystic Kidney
Diseases, Polycystic Renal
Fibrocystic Renal Disease
Kidney Disease, Polycystic
Kidney Diseases, Polycystic
KIDNEY POLYCYSTIC
KIDNEY, POLYCYSTIC DISEASE
KIDNEY, POLYCYSTIC
PCK - Polycystic kidney disease
PKD - Polycystic Kidney Disease
PKD
Polycystic Kidney Diseases [Disease/Finding]
Polycystic Kidney Diseases
Polycystic kidney disease
POLYCYSTIC KIDNEY DIS
Polycystic kidney dysplasia
Polycystic kidney NOS
Polycystic kidney, unspecified type
Polycystic kidney, unspecified
Polycystic kidneys
Polycystic Kidney
Polycystic Renal Diseases
Polycystic Renal Disease
Renal Disease, Polycystic
Renal Diseases, Polycystic

External Source Codes: 
NCI Thesaurus Code C75464 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
AN KIDNEY, CYSTIC and MULTICYSTIC DYSPLASTIC KIDNEY are also available; prefer specifics MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source NICHD NCI
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DID 0725-1693 CSP
DISEASE_IDENTIFIER_ID 5444 GARD
DISEASE_IDENTIFIER_ID 5445 GARD
DX 19910101 MSH
HAS_GARD_PAGE true GARD
HN 1991 MSH
HPO_COMMENT Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. HPO
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE false GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance. NDFRT
MESH_DUI D007690 NDFRT
MESH_NAME Polycystic Kidney Diseases NDFRT
MESH_UI M0012031 NDFRT
MMR 20160630 MSH
MN C12.777.419.403.875 MSH
MN C13.351.968.419.403.875 MSH
MN C16.131.077.717 MSH
MN C16.320.798 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Polycystic Kidney Disease NCI
NUI N0000001755 NDFRT
ORDER_NO 27731 ICD10CM
PM 1991; see POLYCYSTIC KIDNEY 1991-2000 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7419/polycystic-kidney-disease/resources/1 GARD
RXAUI 3222027 RXNORM
RXAUI 3222028 RXNORM
RXAUI 3222039 RXNORM
RXAUI 5039829 RXNORM
RXCUI 987860 RXNORM
SID HP:0004716 HPO
SID HP:0004739 HPO
SID HP:0004740 HPO
SID HP:0008645 HPO
SID HP:0008673 HPO
SID HP:0008699 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 268233005 NDFRT
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T404746 MSH
TERMUI T635467 MSH
TERMUI T811678 MSH
TH GHR (2014) MSH
TH NLM (2001) MSH
TH NLM (2006) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0022680

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