717041008: Syndromic recessive X-linked ichthyosis (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308248017	Syndromic recessive X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308249013	Syndromic X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401458013	A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401459017	A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterised by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308247010	Syndromic recessive X-linked ichthyosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308248017	Syndromic recessive X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308249013	Syndromic X-linked ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401458013	A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401459017	A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterised by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424471001000113	Ichthyose, syndromale X-chromosomale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
908241000172113	ichtyose liée à l'X avec manifestations extra-cutanées	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998541000172112	ichtyose liée à l'X syndromique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
908241000172113	ichtyose liée à l'X avec manifestations extra-cutanées	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998541000172112	ichtyose liée à l'X syndromique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424471001000113	Ichthyose, syndromale X-chromosomale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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