725588002: Bathing suit ichthyosis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding (finding)\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \General finding of soft tissue\Skin finding (finding)\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \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 (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Functional finding\Abnormal keratinization\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Skin finding (finding)\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \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 (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \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 (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.

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
3444113014	A rare variant of autosomal recessive congenital ichthyosis. Less than 20 patients are reported in the literature. Large dark scales are present on warmer skin areas such as the trunk, the scalp, and the axillary region. On affected areas, the scales are similar to those observed in lamellar ichthyosis. Caused by specific thermo-sensitive mutations in the TGM1 gene (encoding transglutaminase 1, involved in the cornification of the stratum corneum). Affected skin areas, show a clearly reduced enzyme activity in contrast to healthy skin areas that demonstrate an almost normal enzyme activity. Transmission is autosomal recessive.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403488013	Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403489017	Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterised by the presence of large dark scales in specific areas of the body.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444111011	Bathing suit ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444112016	Bathing suit ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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