Autosomal dominant tubulointerstitial disease (Q46416): Difference between revisions
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Doenças renais não glomerulares, autossômicas dominantes, caracterizadas por fibrose túbulo-intersticial progressiva e progressão para doença renal em estágio terminal. Atualmente, existem 4 defeitos genéticos conhecidos - na uromodulina, mucina-1, renina e fator nuclear 1-beta dos hepatócitos. O último está associado ao Diabetes de Início da Maturidade dos Jovens (MODY) e, portanto, é classificado como MODY-5. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Nonglomerular, autosomal dominant kidney diseases characterised by progressive tubulointerstitial fibrosis and progression to end-stage renal disease. Currently there are 4 known genetic defects - in uromodulin, mucin-1, renin and hepatocyte nuclear factor 1-beta. The last is associated with Maturity-Onset Diabetes of the Young (MODY) and thus is classified as MODY-5 | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/216863438 / rank | |||||||||||||||
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CID11:GB82 | |||||||||||||||
| Property / CURIE: CID11:GB82 / rank | |||||||||||||||
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dki-india-GB82 | |||||||||||||||
| Property / Canary Token: dki-india-GB82 / rank | |||||||||||||||
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Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: 24-hour Holter monitoring / rank | |||||||||||||||
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Latest revision as of 14:58, 13 August 2026
Nonglomerular, autosomal dominant kidney diseases characterised by progressive tubulointerstitial fibrosis and progression to end-stage renal disease. Currently there are 4 known genetic defects - in uromodulin, mucin-1, renin and hepatocyte nuclear factor 1-beta. The last is associated with Maturity-Onset Diabetes of the Young (MODY) and thus is classified as MODY-5
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | GB82 |
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| English | Autosomal dominant tubulointerstitial disease |
Nonglomerular, autosomal dominant kidney diseases characterised by progressive tubulointerstitial fibrosis and progression to end-stage renal disease. Currently there are 4 known genetic defects - in uromodulin, mucin-1, renin and hepatocyte nuclear factor 1-beta. The last is associated with Maturity-Onset Diabetes of the Young (MODY) and thus is classified as MODY-5 |
Statements
CID11:GB82
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dki-india-GB82
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Concluído
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13 August 2026
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