773501006: Epidermolysis bullosa simplex due to BP230 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5405280019	A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405281015	A rare, inherited, epidermolysis bullosa simplex characterised by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723743011	Epidermolysis bullosa simplex due to BP230 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723744017	Epidermolysis bullosa simplex due to BP230 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723747012	DST (dystonin) related epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
871151000172112	epidermolyse bulleuse simple par déficit en BP230	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
896621000172112	EBS-AR BP230 - epidermolyse bulleuse simple par déficit en BP230	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3423451001000115	Epidermolysis bullosa simplex durch BP230-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Component annotation with string value reference set (foundation metadata concept)

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