890235002: Autosomal recessive epidermolytic ichthyosis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\Congenital ichthyosis of skin\...
• \Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \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\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \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)\Autosomal recessive epidermolytic ichthyosis (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\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (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\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Functional finding\Abnormal keratinization\...
• \Rough skin (finding)\Congenital ichthyosis of skin\...
• \Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\...
• \Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \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)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \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\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \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)\Autosomal recessive epidermolytic ichthyosis (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\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (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\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \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)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Keratinopathic ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Autosomal recessive epidermolytic ichthyosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4011667017	Autosomal recessive epidermolytic ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4011668010	Autosomal recessive epidermolytic ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9984991000172111	ichtyose épidermolytique autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4591511000172115	autosomaal recessieve epidermolytische ichtyose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4591521000172113	autosomaal recessieve keratinopathische ichthyosis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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