717041008: ichtyose liée à l'X syndromique (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Genetic disease\maladie héréditaire\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 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\trouble métabolique\Enzymopathy\Deficiency of steryl-sulphatase\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase deficiency\Syndromic recessive X-linked ichthyosis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\X-linked ichthyosis with steryl-sulfatase 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
750201000241119	ichtyose liée à l'X syndromique (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
998541000172112	ichtyose liée à l'X syndromique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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