733638006: acrale epidermolysis bullosa dystrophica (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3472919015	Acral dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472920014	Acral dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472921013	Acral DEB (dystrophic epidermolysis bullosa)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6165181000146114	acrale epidermolysis bullosa dystrophica (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6165191000146111	acrale epidermolysis bullosa dystrophica	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6825911000146119	acrale dystrofische epidermolysis bullosa	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3472922018	A very rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering confined primarily to the hands and feet. The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Transmission is autosomal dominant (acral dominant dystrophic epidermolysis bullosa) or autosomal recessive (acral recessive dystrophic epidermolysis bullosa).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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