724278007: congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Hair finding\Disorder of hair\...
• \Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\Finding of biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\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)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\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)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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)
• \Finding of trunk structure\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)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\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)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Finding of biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\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)
• \Finding of trunk structure\Disorder of trunk (disorder)\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)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\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)
• \Finding of trunk structure\Disorder of trunk (disorder)\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)
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (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\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Functional finding\Abnormal keratinization\...
• \Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\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\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (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\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (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\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (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\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Inflammatory disorder of digestive system (disorder)\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\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\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\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\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\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 of specific body organs\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Congenital abnormality of liver and/or biliary tract (disorder)\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Congenital anomaly of biliary tract\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of liver and/or biliary tract\Disorder of biliary tract\Cholangitis\Sclerosing cholangitis\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\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\Disorder of trunk (disorder)\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\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\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\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)\Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\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
6246111000146118	neonataal ichtyose-scleroserende cholangitis-hypotrichose-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6246131000146113	NISCH-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6246141000146117	IHSC-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12581481000146110	congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12581491000146112	congenitaal syndroom van ichthyosis, hypotrichie en scleroserende cholangitis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12581501000146119	congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

This concept is not in any reference sets

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