724277002: Congenital ichthyosis with hypotrichosis syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation à propos de la pilosité\trouble de la pilosité\...
• \Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Congenital ichthyosis with hypotrichosis syndrome (disorder)

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
3433502013	Congenital ichthyosis with hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433503015	Congenital ichthyosis with hypotrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433504014	Ichthyosis, follicular atrophoderma, hypotrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433505010	Syndrome with characteristics of congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase on chromosome 11q24. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

US English

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