loading...| Preferred Name |
Multicystic renal dysplasia |
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| Synonyms |
Multicystic dysplastic kidney MCKD - Multicystic kidney disease |
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| Definitions |
A congenital anomaly of the kidney and urinary tract in which one or both kidneys are large, distended by multiple cysts, and non-functional. Global prevalence is not known, but the unilateral form is the most frequent. The disorder frequently presents antenatally at routine ultrasound scan. Bilateral disease is considered a lethal entity and most pregnancies are terminated. The disorder results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Mutations in the HNF1B gene (17q12) are strongly associated with the development of this disease. Most cases are sporadic. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/737562008 |
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| Active |
1 |
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| altLabel |
Multicystic dysplastic kidney Multicystic renal dysplasia (disorder) MCKD - Multicystic kidney disease |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
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| CTV3ID |
XUyqA |
|
| cui |
C3714581 |
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| definition |
A congenital anomaly of the kidney and urinary tract in which one or both kidneys are large, distended by multiple cysts, and non-functional. Global prevalence is not known, but the unilateral form is the most frequent. The disorder frequently presents antenatally at routine ultrasound scan. Bilateral disease is considered a lethal entity and most pregnancies are terminated. The disorder results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Mutations in the HNF1B gene (17q12) are strongly associated with the development of this disease. Most cases are sporadic. |
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| DEFINITION STATUS ID |
900000000000073002 |
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| Effective time |
20190731 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
737562008 |
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| Occurs in | ||
| prefLabel |
Multicystic renal dysplasia |
|
| Subset member |
447562003~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS Q61.4 6011000124106~MAPTARGET~Q61.4 6011000124106~MAPGROUP~1 447562003~MAPTARGET~Q61.4 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000497000~MAPTARGET~XUyqA 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~ALWAYS Q61.4 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |