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

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...
• \Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Epidermolysis bullosa simplex due to BP230 deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723743011	Epidermolysis bullosa simplex due to BP230 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723744017	Epidermolysis bullosa simplex due to BP230 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723747012	DST (dystonin) related epidermolysis bullosa simplex	en	Synonym	Active	Case sensitive	SNOMED CT core
3723742018	A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.	en	Definition	Active	Case sensitive	SNOMED CT core
3723745016	A rare hereditary basal epidermolysis bullosa simplex characterised by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.	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

Description inactivation indicator reference set

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