724278007: Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos de la pilosité\trouble de la pilosité\...
• \Disorder of hair growth\Hypotrichosis (disorder)\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Congenital anomaly of hair\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\constatation à propos des voies biliaires\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\constatation à propos des voies biliaires\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos des voies biliaires\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos des voies biliaires\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\Inflammation of specific body systems\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\inflammation d'un organe corporel spécifique\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, 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)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia (disorder)\Neonatal sclerosing cholangitis, ichthyosis, 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
3433517012	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433518019	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433519010	Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433520016	NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433521017	NISCH syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433522012	A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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