717041008: Syndromic recessive X-linked ichthyosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\...
• \Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Functional finding\Abnormal keratinisation\...
• \Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Metabolic disease\Enzymopathy\Deficiency of steryl-sulfatase\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Congenital disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308247010	Syndromic recessive X-linked ichthyosis (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3308248017	Syndromic recessive X-linked ichthyosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308249013	Syndromic X-linked ichthyosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3308250013	Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive.	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

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