Dominant dystrophic epidermolysis bullosa, generalised (Q96100): Difference between revisions
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Epidermólise bolhosa distrófica dominante generalizada manifesta-se como bolhas e cicatrizes induzidas por traumatismo mais proeminentes sobre as proeminências ósseas, especialmente dorso das mãos, joelhos, tornozelos e pés. É devida a uma ausência de colágeno tipo VII como resultado de mutações no gene COL7A1. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1235671891 / rank | |||||||||||||||
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CID11:ID_1235671891 | |||||||||||||||
| Property / CURIE: CID11:ID_1235671891 / rank | |||||||||||||||
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dki-india-ID_1235671891 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1235671891 / 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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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:58, 16 August 2026
Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1235671891 |
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| English | Dominant dystrophic epidermolysis bullosa, generalised |
Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene. |
Statements
CID11:ID_1235671891
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dki-india-ID_1235671891
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Concluído
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15 August 2026
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