DiseaseID 26083
1型胆囊疾病
Gallbladder Disease 1
SNOMEDCT_US_2016_09_01:The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less th
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Disease: 1Symptom: 3Target: 16Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26083
- Core Entity Id
- 118651
- Source Entity Count
- 1
- Preferred Name
- Gallbladder Disease 1
- Name Cn
- 1型胆囊疾病
- Name Pinyin
- 1 Xing Dan Nang Ji Bing
- Name En
- Gallbladder Disease 1
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree. A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gallbladder Disease 1
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C2609268
Sym Map
SMDE01869
Etcm Disease
Gallbladder Disease 1
Itcmdb Generated
ITX-DISEASE-5C9DA356A29F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Gallbladder Disease 1 Details page
Basic Information
Disease Name
Gallbladder Disease 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Liver diseases;Nephrological diseases
Disease Definition
SNOMEDCT_US_2016_09_01:The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree. A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity.