1231284001: Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...
• \Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Autosomal dominant generalised dystrophic epidermolysis bullosa

Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5072054010	Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5072055011	Generalised DDEB (generalised dystrophic epidermolysis bullosa)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5072056012	Generalized DDEB (generalized dystrophic epidermolysis bullosa)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5072057015	Autosomal dominant generalized dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
5072058013	Autosomal dominant generalised dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
5072061014	DDEB (dominant dystrophic epidermolysis bullosa) intermediate	en	Synonym	Active	Case sensitive	SNOMED CT core
5072059017	A rare dystrophic epidermolysis bullosa (DEB) characterised by generalised blistering, milia formation, atrophic scarring, and dystrophic nails. Caused by mutations in the collagen VII gene (COL7A1; 3p21.31) that lead to an alteration of function or a reduction in the amount of collagen VII. The molecular defect impairs collagen VII assembly into anchoring fibrils which fix the basement membrane to the underlying dermis, causing reduced skin resistance to minor trauma. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core
5072060010	A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. Caused by mutations in the collagen VII gene (COL7A1; 3p21.31) that lead to an alteration of function or a reduction in the amount of collagen VII. The molecular defect impairs collagen VII assembly into anchoring fibrils which fix the basement membrane to the underlying dermis, causing reduced skin resistance to minor trauma. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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Problem/Diagnosis reference set

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