763401009: Ichthyosis prematurity syndrome (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642106015	Congenital ichthyosis type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642107012	Ichthyosis prematurity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642108019	Ichthyosis prematurity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3642109010	A rare syndromic congenital ichthyosis with characteristics of premature birth in addition to thick caseous and desquamating epidermis, neonatal respiratory asphyxia and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. The disease is caused by mutation in the FATP4 (SLC27A4) gene.	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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