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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002148
http://purl.bioontology.org/ontology/NDFRT/N0000002148
|
|---|---|
| Preferred Name | Nephritis, Hereditary [Disease/Finding] |
| Synonyms |
Nephritis, Familial
Hereditary Nephritis
Hereditary Interstitial Pyelonephritis
Nephritis, Hereditary
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Nephritis, Familial
Hereditary Nephritis
Hereditary Interstitial Pyelonephritis
Nephritis, Hereditary
|
|---|---|
| prefLabel |
Nephritis, Hereditary [Disease/Finding]
|
| notation |
N0000002148
|
| MESH DEFINITION |
A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
|
| MESH UI |
M0014627
|
| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
Nephritis, Hereditary
|
| NDFRT kind |
DISEASE_KIND
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| type | |
| SNOMED CID |
399340005
|
| tui |
T047
|
| NUI |
N0000002148
|
| cui |
C0027706
|
| MESH DUI |
D009394
|
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