725407006: Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\...
• \Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \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\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalised dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3442281010	Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3442282015	Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3442283013	RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other	en	Synonym	Active	Case sensitive	SNOMED CT core
3442284019	RDEB-O - recessive dystrophic epidermolysis bullosa-generalised other	en	Synonym	Active	Case sensitive	SNOMED CT core
3442285018	A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3442286017	A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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