Cholelithiasis

Symptom Information:

Symptom ID: HPO:0001081
Synonyms:
Gallstones [HPO:0001081]
Gallbladder lithiasis [Orphanet:29060]
Biliary tract lithiasis [Orphanet:29060]
Gallbladder calculus (disorder) [Orphanet:29060]
Calculus in biliary tract (disorder) [Orphanet:29060]
CHOLELITHIASIS [HPO:0001081]
Cholelithiasis [Orphanet:29060]
Cholecystolithiasis [Orphanet:29060]
Cholelithiasis [OMIM:Cholelithiasis]
Gallstones [OMIM:Gallstones]
Biliary/gallbladder stones/lithiasis/cholecystitis [Orphanet:29060]
Stone in gallbladder [Orphanet:29060]
Cholelithiasis [MedDRA:10008629]
Biliary sludge [MedDRA:10008629]
Biliary stones [MedDRA:10008629]
Calculus biliary [MedDRA:10008629]
Calculus gallbladder [MedDRA:10008629]
Calculus in gallbladder [MedDRA:10008629]
Calculus of gallbladder without mention of cholecystitis [MedDRA:10008629]
Calculus of gallbladder without mention of cholecystitis, without mention of obstruction [MedDRA:10008629]
Cholesterol gallstones [MedDRA:10008629]
Gallbladder stones [MedDRA:10008629]
Gallbladder sludge [MedDRA:10008629]
Gallbladder stone [MedDRA:10008629]
Gallstones [MedDRA:10008629]
Mixed stones [MedDRA:10008629]
Pigment stones [MedDRA:10008629]
Stone in gallbladder [MedDRA:10008629]
Cholecystolithiasis [MedDRA:10008629]
Pseudocholelithiasis [MedDRA:10008629]
Biliary sand [MedDRA:10008629]
Low phospholipid-associated cholelithiasis [MedDRA:10008629]
Cholelithiasis (19% of adults) [OMIM:Cholelithiasis (19% of adults)]
Cholelithiasis (in some patients) [OMIM:Cholelithiasis (in some patients)]
Gallstones (in some patients) [OMIM:Gallstones (in some patients)]
Quality:
Cross references:
Orphanet:29060 "Biliary/gallbladder stones/lithiasis/cholecystitis" [Orphanet:29060]
OMIM: "Cholelithiasis" [OMIM:Cholelithiasis]
OMIM: "Gallstones" [OMIM:Gallstones]
OMIM: "Cholelithiasis (19% of adults)" [OMIM:Cholelithiasis (19% of adults)]
OMIM: "Cholelithiasis (in some patients)" [OMIM:Cholelithiasis (in some patients)]
OMIM: "Gallstones (in some patients)" [OMIM:Gallstones (in some patients)]
UMLS:C0947622 "CHOLELITHIASIS" [HPO:0001081]
UMLS:C0008350 "Cholelithiasis" [Orphanet:29060]
UMLS:C0947622 "Cholecystolithiasis" [Orphanet:29060]
Is a (Direct Parents):
MedDRA Cholecystitis and cholelithiasis
HPO         Abnormal gallbladder morphology
Orphanet Decreased liver function
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal organs(HPO:0002012)
             Abnormality of the liver(HPO:0001392)
                Abnormality of the biliary system(HPO:0004297)
                   Abnormality of the gallbladder(HPO:0005264)
                      Abnormal gallbladder morphology(HPO:0012437)
                         Cholelithiasis(HPO:0001081)
MedDRA:
Hepatobiliary disorders(MedDRA:10019805)
    Gallbladder disorders(MedDRA:10017628)
       Cholecystitis and cholelithiasis(MedDRA:10008616)
          Cholelithiasis(HPO:0001081)
Database Frequency: 36 / 7739
Resource:

All diseases associated with this symptom:

22q11.2 deletion syndrome (Orphanet:567)
Alström syndrome (Orphanet:64)
Autoimmune polyendocrinopathy type 1 (Orphanet:3453)
Benign recurrent intrahepatic cholestasis type 2 (Orphanet:99961)
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE (OMIM:214980)
Cerebrotendinous xanthomatosis (Orphanet:909)
Congenital dyserythropoietic anemia type II (Orphanet:98873)
Congenital erythropoietic porphyria (Orphanet:79277)
Cystinuria (Orphanet:214)
DIGEORGE SYNDROME (OMIM:188400)
Dehydrated hereditary stomatocytosis (Orphanet:3202)
Erythropoietic protoporphyria (Orphanet:79278)
GALLBLADDER DISEASE 4 (OMIM:611465)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 2 (Orphanet:77260)
Gaucher disease type 3 (Orphanet:77261)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Glycogen storage disease due to muscle phosphofructokinase deficiency (Orphanet:371)
HEMOGLOBIN--BETA LOCUS (OMIM:141900)
Hemolytic anemia due to diphosphoglycerate mutase deficiency (Orphanet:714)
Hemolytic anemia due to red cell pyruvate kinase deficiency (Orphanet:766)
Hereditary spherocytosis (Orphanet:822)
Hyperbiliverdinemia (Orphanet:276405)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Low phospholipid associated cholelithiasis (Orphanet:69663)
Non-spherocytic hemolytic anemia due to hexokinase deficiency (Orphanet:90031)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
PROTOPORPHYRIA, ERYTHROPOIETIC (OMIM:177000)
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED (OMIM:300752)
SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Sickle cell anemia (Orphanet:232)
Steinert myotonic dystrophy (Orphanet:273)
Triose phosphate-isomerase deficiency (Orphanet:868)
Wolfram syndrome 1 (OMIM:222300)